DNA Today: A Genetics Podcast

What happens when someone known for strength, stature, and intimidating roles faces a diagnosis most people do not associate with men?   Tyler Mane is known for playing Sabretooth in X-Men and Deadpool & Wolverine, Michael Myers in Halloween, and Ajax in Troy. Before his acting career, Tyler spent more than a decade wrestling professionally around the world, including appearances with WCW and UWF as Big Sky and Nitron. Recently, Tyler has taken on a very different role: raising awareness about male breast cancer.   Tyler joins host Kira Dineen to share his experience of discovering a breast lump, initially believing it was a lipoma, having his concerns dismissed, and ultimately receiving a breast cancer diagnosis. He opens up about his first instinct to keep the diagnosis private, the embarrassment he initially felt, and what motivated him to speak publicly. Episode Discussion Topics The breast lump that led Tyler to seek medical care Why Tyler and his wife, Renae, initially believed the lump was a lipoma Having his concerns dismissed and continuing to pursue answers Tyler’s first reaction to his breast cancer diagnosis The embarrassment and stigma surrounding male breast cancer Why he ultimately decided to share his story publicly Symptoms and physical changes men should pay attention to How masculinity and “toughing it out” can delay medical care The importance of self-advocacy and early detection How cancer treatment differs from the physical demands of wrestling Redefining strength during illness and recovery Genetic counseling and germline genetic testing after a male breast cancer diagnosis The implications of Tyler’s BRCA2+ genetic testing results for treatment and relatives including his adult children  How Tyler’s public image affects the response to his diagnosis Tyler and Renae’s upcoming podcast, MANE AF   Resources & Links Tyler Mane’s Breast Cancer Announcement Instagram Video @TheRealTylerMane @ManeAFpod NCCN Patient Resources for Breast Cancer NCCN patient resources are based on the same treatment information your doctors use and help you talk to your doctor about the best treatment options for your disease. National Cancer Institute: Breast Cancer in Men The National Cancer Institute provides an overview of male breast cancer symptoms, diagnosis, treatment, genetic testing, and questions patients may want to discuss with their healthcare teams. The NCI notes that inherited variants in BRCA1, BRCA2, and other genes may influence treatment and have implications for relatives. Facing Our Risk of Cancer Empowered (FORCE) FORCE provides education, peer support, advocacy, research updates, and resources for people and families affected by inherited cancer risk, including BRCA1, BRCA2, PALB2, ATM, CHEK2, and other genes. Find a Genetic Counselor The National Society of Genetic Counselors’ (NSGC) directory can help patients locate a genetic counselor specializing in cancer genetics, either locally or through telehealth. Cancer Genetic Testing Genetic testing panels vary with how many genes are included. Healthcare providers can order just one gene or around a hundred, and everything in between. Tyler mentioned his possibly including 85, which is plausible.    Relevant DNA Today Podcast Episode #360 Hereditary Breast Cancer on the Big Screen with Love, Danielle Actress and filmmaker Devin Sidell and hereditary cancer advocate Amy Byer Shainman discuss the film Love, Danielle, Devin’s experience with a BRCA1 pathogenic variant, hereditary breast cancer, preventive surgery, family communication, and using storytelling to increase awareness. #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel This episode explores hereditary breast cancer testing, the genes included on breast cancer panels, and how researchers evaluate which genes have sufficient evidence to guide clinical care. #159 Black Cancer Genes on Breast Cancer Attorney and BRCA advocate Erika Stallings and genetic counselor Dena Goldberg discuss breast cancer genetics, BRCA1 and BRCA2, racial disparities in cancer genetics, and improving access to genetic counseling and testing in the Black community. #165 Sequencing for Cancer Risk with Sandra Balladares Scientist and breast cancer survivor Dr. Sandra Balladares shares her experience with breast cancer and discusses how genomic sequencing can identify inherited cancer risk, particularly within historically underserved populations. #81 Irina Brooke on BRCA2 Patient advocate Irina Brooke shares her BRCA2 journey, including genetic counseling, genetic testing, cancer-risk management, and supporting people and families affected by hereditary cancer. #25 Hereditary Cancer Syndromes with Ellen Matloff and Amy Byer Shainman Hereditary cancer experts Ellen Matloff and Amy Byer Shainman discuss BRCA-associated cancer risks, genetic counseling, genetic testing, breast and ovarian cancer, and the documentary Pink & Blue, which includes the experiences of men affected by breast cancer.   Connect with DNA Today You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.” Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios. Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network. DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.  Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.  Questions, partnership inquiries, and guest pitches can be sent to [email protected].

Preparing for the genetic counseling board exam can feel overwhelming. Between the extensive study materials, challenging practice questions, and uncertainty about what to expect on exam day, candidates often struggle to determine where to begin and how to use their preparation time effectively. In this episode of DNA Today, host Kira Dineen is joined by Melanie Hardy and Amy Shikany to explore the new and updated resources available to candidates preparing for the American Board of Genetic Counseling (ABGC) Certification Examination. Melanie Hardy is the 2026 President of ABGC, and Amy Shikany is ABGC President-Elect and a past Chair of the Certification and Education Committee. Together, they discuss ABGC’s Certify webpage, the new CGC self-study guide, the approved references list, a new student webinar, and the updated practice examination that launched on June 15, 2026. They also take listeners behind the scenes of how the certification exam is developed, reviewed, and maintained.   Discussion Topics: What the ABGC Certification Examination is designed to assess Where candidates should begin when navigating ABGC’s certification and exam resources How to use the exam content outline when developing a study plan Why ABGC created its new CGC self-study guide How candidates can use the self-study guide alongside the approved references What candidates can expect from ABGC’s new student webinar How questions for the certification exam are written and reviewed What makes a strong “one best answer” board-exam question How ABGC evaluates questions for accuracy, relevance, fairness, and justice, equity, diversity, and inclusion considerations What has changed in the updated ABGC practice examination How closely the practice exam reflects the structure and reasoning required on the certification exam How candidates should interpret their practice-exam results How the passing standard for the certification exam is determined Preparation steps candidates should take before exam day Encouragement and next steps for candidates who do not pass on their first attempt How certified genetic counselors can contribute to the development and maintenance of the examination One clarification from the conversation: candidates are provided access to a simple calculator during the certification exam.   About the Guests Melanie Hardy, MS, CGC is the 2026 President of the American Board of Genetic Counseling. Through her leadership with ABGC, she supports the organization’s work to establish and maintain certification standards for the genetic counseling profession and provide resources for current and future certified genetic counselors.   Amy Shikany, MS, CGC is President-Elect of the American Board of Genetic Counseling and a past Chair of ABGC’s Certification and Education Committee. Her work with ABGC has included supporting the development, review, and ongoing maintenance of the genetic counseling certification examination.   Resources Mentioned American Board of Genetic Counseling (ABGC) website Introducing the New CGC® Logo & Digital Badge ABGC Certify  Eligibility Requirements Certification Process, Exam and Fees Need-Based Certification Scholarship ABGC CGC Exam Resources Candidate Guide (Start here) Exam Content Outline Self Study Guide  Syndromes and Disorders List on Pages 19 and 20 Practice Exam Examination References  Exam Performance Taskforce Report Student Webinar (Coming Soon) Relevant DNA Today Episodes: #397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors — Monica Marvin, Dr. Claire Davis, and Heather Rich explain ABGC’s new Continuing Competence Learning Scenarios, how the requirement fits into recertification, and what certified genetic counselors need to know. #295 Genetic Counseling Board Exam Updates with ABGC — ABGC President Angela Trepanier and Executive Director Heather Rich provide an inside look at the certification exam, including exam development, scoring, administration, costs, financial assistance, equity, and available resources. #235 Genetic Counseling History: ABGC Formation — Seasoned genetic counselors Ann Walker and Ed Kloza share about the formation of ABGC #138 Genetic Counseling Boards Advice — Three genetic counselors share their experiences preparing for and taking the board exam, including study schedules, review courses, subject areas, resources, and balancing studying with work. #126 Adam Buchanan on ABGC Boards Exam — Then-ABGC President Adam Buchanan answers listener questions about the exam’s structure, content, study resources, scoring, results, testing accommodations, cost, and inclusivity. #57 Georgia Hurst on Lynch Syndrome — Patient advocate Georgia Hurst opens up about how Lynch syndrome has affected her and her family. This episode was mentioned towards the end of the interview.    Connect: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What happens when DNA from a decades-old crime scene meets a family tree created generations later? That combination helped investigators identify the Golden State Killer and transformed how law enforcement approaches some of the country’s most difficult cold cases. Content warning: This episode includes discussions of murder, sexual assault, suicide, and other sensitive topics. In this episode of DNA Today, host Kira Dineen speaks with Paul Holes, a retired cold-case investigator, New York Times bestselling author, podcaster, and television host. During his 27-year career with the Contra Costa County Sheriff’s and District Attorney’s Offices, Paul worked on some of the most infamous cases in American criminal history, including the Zodiac murders, the kidnapping of Jaycee Dugard, and the investigation that ultimately identified Joseph DeAngelo as the Golden State Killer. Paul is also the author of Unmasked: My Life Solving America’s Cold Cases, co-host of the podcast Small Town Dicks, and one of the investigators featured in the television special Celebrity Crime Scene: Marilyn Monroe, available on Hulu. We explore the science, strategy, and ethical complexity behind cold-case investigations. Paul shares how investigators determine whether decades-old evidence still holds value, what kind of DNA evidence would be needed to scientifically resolve the Zodiac case, and why older biological samples create difficult decisions about whether to test now or preserve evidence for future technologies. The episode also dives into the landmark investigation that identified the Golden State Killer. Paul walks through how traditional forensic DNA databases failed to produce a match, why investigative genetic genealogy changed the direction of the case, and how distant relatives’ DNA helped investigators build family trees that eventually led to Joseph DeAngelo. Later in the episode, Paul discusses his latest project, Celebrity Crime Scene: Marilyn Monroe, and how modern virtual reconstruction can be used to reexamine a historic death scene more than six decades later. Episode Discussion Topics Cold-case investigations and how evidence is reexamined decades later How investigators decide which biological samples may still have forensic value The Zodiac Killer case and what would be needed to consider it scientifically solved The challenges of DNA evidence from stamps, envelopes, letters, and other handled items Why finite evidence creates difficult decisions about testing now versus waiting for future technology The role of DNA in linking the Golden State Killer crimes before a suspect was identified Why traditional forensic DNA databases did not solve the case How investigative genetic genealogy helped generate a new lead How distant relatives’ DNA can help identify someone who never uploaded their own DNA The scientific and investigative process behind building genealogical trees from crime-scene DNA How investigators narrowed family branches until Joseph DeAngelo became a viable suspect Reconstructing Marilyn Monroe’s final hours using virtual crime-scene technology What records, photographs, reports, and witness statements can reveal in historical case reviews About Paul Holes Paul Holes is a retired cold-case investigator, New York Times bestselling author, podcaster, and television host. During his 27-year career with the Contra Costa County Sheriff’s and District Attorney’s Offices, he investigated some of the country’s most complex and high-profile cases, including the Zodiac murders, the kidnapping of Jaycee Dugard, and the Golden State Killer case. Paul’s work helped bring national attention to the power of investigative genetic genealogy, particularly through the identification of Joseph DeAngelo as the Golden State Killer. He is the author of Unmasked: My Life Solving America’s Cold Cases, co-host of Small Town Dicks, and appears in Celebrity Crime Scene: Marilyn Monroe. Resources Unmasked: My Life Solving America’s Cold Cases by Paul Holes Small Town Dicks podcast Celebrity Crime Scene: Marilyn Monroe, available on Hulu Relevant DNA Today Podcast Episode #326: How DNA Solves Crimes: The Forensic Science Behind True Crime #131: DTC Series: Libby Copeland on Law Enforcement Use of Genetic Databases #130 DTC Series: Anne Greb on 23andMe Connect Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Just a few years ago, there were no pharmacological treatments for patients with achondroplasia. Today, with multiple therapies on the market, the conversation has shifted from if we can treat to how we treat safely, consistently, and thoughtfully.  In this third and final installment of our achondroplasia series, sponsored by BioMarin, we explore the recently published international consensus guidelines for vosoritide. These guidelines provide a roadmap for the entire treatment lifecycle, from the initial diagnosis and counseling to initiation, monitoring, and eventually, the transition off therapy.  You can review the prescribing information for vosoritide here with additional safety information, including about the risk of low blood pressure.   Joining us in-person all the way from Australia is the lead author of these guidelines, Dr. Ravi Savarirayan. Dr. Savarirayan is a global leader in skeletal dysplasia and has been a driving force in the clinical development of vosoritide from its earliest stages.    Topics Discuss:    The Journey of Vosoritide: Dr. Savarirayan shares his personal "why", from the early research phases to the clinical trials that changed the landscape of skeletal dysplasia care.    Precision Medicine at the Molecular Level: How vosoritide acts as the first precision medicine approved for achondroplasia by targeting and counteracting overactive FGFR3 signaling, along with important safety information such as a risk for low blood pressure    The International Guidelines: Why a global consensus was necessary and how it addresses gaps in real-world clinical practice.    The Treatment Lifecycle:    Counseling: Setting expectations and having the first conversation with families.  Initiation: Practical tips for daily subcutaneous injections and establishing a routine.  Safety & Monitoring: How clinicians monitor growth and manage safety considerations like hypotension across different age groups.  Discontinuation: How to navigate growth plate closure and the transition off therapy.  The Future of Care: How these guidelines will evolve as we gather more long-term, real-world data.    Our Guest Dr. Ravi Savarirayan:    Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia.    Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA).    Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries.     His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow.    Summary:   We talk about the journey to vosoritide, Dr. Ravi’s personal history with achondroplasia research, published treatment guidelines and how vosoritide is approved under accelerated approval to increase linear growth in pediatric patients with achondroplasia with open epiphyses.  We also discuss the most serious side effect seen—transient decreases in blood pressure, which is why patients should have adequate food and fluid intake prior to administration.  We also cover that it is a daily injection and that injection site reactions are the most common side effect and some patients also experienced vomiting, injection site urticaria, arthralgia, decreased blood pressure, and gastroenteritis.  Those aren't all the side effects, so please refer to the prescribing information here for more information about vosoritide.    Relevant Resources:   Savarirayan, R., Hoover-Fong, J., Ozono, K. et al. International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia. Nat Rev Endocrinol 21, 314–324 (2025). https://doi.org/10.1038/s41574-024-01074-9    Here is a list of Dr. Ravi Savarirayan’s publications, there are far too many to list them all here.      Dr. Ravi Savarirayan Video Explaining Vosoritide       Relevant DNA Today Episodes:   #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer   #301 Dwarfism with Colleen Gioffreda   #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders)   #359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains (Biomarin’s Sponsored Series First Installment)  #385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity  #386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs (Biomarin’s Sponsored Series Second Installment)     Connect With Us:    Luckily, you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”  Prefer watching? We’ve got you covered! For years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!   DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. Our makeup artist for recordings at NBC Universal is Sharon DeMasi. Our logo Graphic Designer is Ashlyn Enokian, MS, CGC.   See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Four hundred episodes. Nearly fourteen years of conversations. One podcast that began with a high school student, a Rock Band microphone, and a deep curiosity about genetics. For this milestone episode, DNA Today is turning the microphone around. Kira Dineen is joined by Jess Rizzo, a 2026 graduate of the Rutgers University Genetic Counseling Master’s Program, to look back at the evolution of DNA Today, from its earliest episodes in 2012 to becoming a multi-award-winning genetics podcast and the foundation for Gene Pool Media. Kira shares how the original idea for DNA Today came together, where the name came from, and what she remembers about recording those first episodes. She also reflects on the major turning points that shaped the podcast, including its first sponsorship, conversations with prominent leaders in genetics, and interviews that changed how she thinks about both science and storytelling. The conversation explores what makes someone an effective science communicator, what separates a good podcast guest from an unforgettable one, and how DNA Today expanded into Gene Pool Media. Kira also looks ahead to the future of the podcast and considers whether the version of herself who started the show in 2012 could ever have imagined reaching Episode 400. The episode concludes with a rapid-fire round of “DNA Today Superlatives,” featuring Kira’s dream guests, proudest episode production, most surprising topics, most popular episode, and the conversations that have had the greatest personal impact on her. An exciting announcement, since recording we learned we have been ranked number one on Million Podcast’s list of “Best DNA Podcasts in the US”.   Thank you to our audience for sticking with us! Whether you have been listening since 2012, or last week. We appreciate your support in growing DNA Today over the last 14 years.  About Host Kira Dineen Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her) has 15 years of podcast experience fueled by a passion for science communication. She has hosted and/or produced a dozen podcasts, many of which are in her science podcast network: Gene Pool Media. Her flagship show, DNA Today, is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira’s interviews about genetic technology, disorders, and news. The show has won the Best Science and Medicine Podcast Award for three years, among others. Over the last 14 years, DNA Today has produced over 400 episodes with support from over 100 sponsors. She was accepted into The Podcast Academy and previously served on the National Society of Genetic Counselor’s Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science at Sarah Lawrence College and is a practicing licensed certified genetic counselor at a high risk pregnancy center in Connecticut. Kira serves as an adjunct faculty member at Bay Path University teaching Ethics and Reproductive Genetics.  In This Episode, We Discuss How DNA Today began in 2012 The story behind the podcast’s name What the earliest recordings were like How the show has evolved over 400 episodes Major episodes and guests that shaped the direction of the podcast The first DNA Today sponsorship on Episode 100 (shoutout KGI)  What makes a strong science communicator The qualities that make a podcast guest memorable How Gene Pool Media grew out of DNA Today The lessons Kira has learned from interviewing patients, families, researchers, genetic counselors, physicians, advocates, and other experts The future of DNA Today and Gene Pool Media Kira’s favorite, most impactful, and most surprising episodes DNA Today Episodes Referenced #25: Hereditary Cancer Syndromes with Ellen Matloff  #110: Analyzing Gattaca #142 Barbara Fortini on KGI’s Genomic Data Analytics #100: Human Hereditary with Carl Zimmer #211: Gene Patents with Jorge Contreras  #264: XXY/Klinefelter Syndrome with Ryan Bregante #288 and #289: Sickle Cell Disease CRISPR Treatment with Victoria Gray #300: “The Man with 1,000 Kids” Netflix Doc with Eve Wiley and Laura  #306: Human Genome Project and COVID-19 Leadership with Dr. Francis Collins #370: Genetics Wrapped: 2025 Top Advances in Genomic Medicine with Drs. Eric Green and Sarah Tishkoff #390: Pfeiffer Syndrome with Prince’s Wife/Co-Parent, Mayte Garcia Additional Resources Referenced Gene Pool Media: The Science Podcast Network Listen & Learn: A Rare Disease Podcast Course by Gene Pool Media DNA Dialogues: The Official Podcast of the Journal of Genetic Counseling  DNA Clarity and Support Podcast All Access DNA Podcast  Mugglecast: A Harry Potter Podcast (2005-Present) Keck Graduate Institute  Master of Science in Human Genetics and Genetic Counseling Master of Science in Human Genetics and Genomic Data Analytics My Gene Counsel  “My Medical Choice” Angelina Jolie’s NTY Op-Ed Piece The Most Beautiful: My Life with Prince A Memoir By Mayte Garcia   Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

What condition helped spark the creation of newborn screening in the United States? It was Phenylketonuria, or PKU, a rare inherited metabolic disorder that forever changed how we identify and treat genetic conditions from the very start of life. In this in-person episode of DNA Today, we kick off a three-part series on phenylketonuria, better known as PKU, by looking at how one condition became central to a major public health shift. Host Kira Dineen is joined in person by Sarah Chamberlin and Ryan Miller to explore the scientific, clinical, historical, and deeply personal sides of PKU. We explore the history of newborn screening itself, including the work of Dr. Robert Guthrie and the development of the Guthrie card. Sarah brings a remarkable piece of history to the recording: the original stamp used to create early Guthrie cards. Ryan, Sarah, and Kira unpack why PKU remains both a newborn screening success story and an ongoing challenge. From treatment access and medical nutrition coverage to state-by-state differences in newborn screening panels and the promise and complexity of newborn sequencing, this episode shows why PKU is still shaping conversations about genetics, public health, and rare disease care. Thank you to PTC Therapeutics for sponsoring this three-part series on PKU. Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice. Episode Discussion Topics Why PKU helped launch newborn screening in the United States What life was like for individuals with PKU before newborn screening How PKU affects the body on a metabolic level The role of phenylalanine hydroxylase deficiency Why elevated phenylalanine levels can impact brain development Dr. Robert Guthrie’s role in developing newborn screening The history and significance of the Guthrie card Sarah’s experience learning her daughter’s newborn screen was flagged for PKU What confirmatory testing and early treatment looked like for Izzy How newborn screening panels vary across states What the Recommended Uniform Screening Panel, or RUSP, is Gaps in access to medical formula and low-protein medical foods Why insurance coverage remains a major challenge for families The promise and concerns around newborn sequencing How clinicians can better support newly diagnosed families Why connecting families with community early can be life-changing The need for more metabolic geneticists, genetic counselors, and dietitians Guest Bios Sarah Chamberlin is a parent of a child with PKU and a founder and the Chief Program Officer of flok, a patient advocacy organization supporting individuals and families affected by inherited metabolic disorders. Ryan Miller is Senior Director, Field Medical Lead at PTC Therapeutics on the U.S. Medical Affairs Metabolism team, where he supports PKU. He is trained as a genetic counselor. Resources PKU / Phenylketonuria Phenylalanine hydroxylase deficiency ACT Sheet The Newborn Screening Information Center (NBSIC) Recommended Uniform Screening Panel, or RUSP RUSP overview for families ACMG Newborn Screening ACT Sheets and Algorithms flok health Baby’s First Test: Newborn Screening Information National PKU Alliance Guthrie-Kock Scholarships from flok David’s story of learning of an older brother with PKU who was institutionalized Referenced DNA Today Podcast Episode #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida Connect With Us Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

What if the future of human health doesn’t just begin in the clinic, but in the soil? In this episode of DNA Today, we explore the new documentary Groundswell, the final chapter in the regenerative agriculture documentary trilogy that began with Kiss the Ground and continued with Common Ground. Narrated by Demi Moore and Woody Harrelson, Groundswell follows regenerative agriculture solutions across five continents, showing how restoring soil health can support biodiversity, food systems, local economies, climate resilience, and human health. This episode takes DNA Today into a different but deeply relevant corner of genetics and genomics. While we often focus on human genetics, Groundswell broadens the lens to show how genetics is embedded in entire ecosystems. Soil is alive with microbial diversity. Plants depend on complex relationships with bacteria, fungi, insects, and the environment around them. Crop diversity and seed diversity can influence resilience to drought, pests, disease, and changing climate conditions. Human health is also shaped not only by our DNA, but by the environments we live in, the food we eat, the water we drink, the chemicals we are exposed to, and the microbes we encounter. Joining us are Nikki Reed, co-producer of Groundswell, and Rebecca Harrell Tickell, co-director of the film.  About Nikki Reed Many listeners will know Nikki from her role as Rosalie Hale in The Twilight Saga, as well as her work in Thirteen, which she co-wrote and starred in, and her role in The O.C. Beyond acting, Nikki is also a filmmaker, farmer, entrepreneur, and environmental advocate. About Rebecca Harrell Tickell Rebecca Harrell Tickell is an award-winning filmmaker, producer, and environmental activist whose work includes Kiss the Ground, Common Ground, and now Groundswell. Through this trilogy, Rebecca and her collaborators have helped bring regenerative agriculture into mainstream conversations about climate, food, health, and the future of farming. In This Episode, We Discuss How Nikki Reed’s experience in Twilight shaped the way she thinks about storytelling, cultural influence, and using her platform for impact Why Nikki became involved in regenerative agriculture and how her connection to food, farming, and environmental advocacy became personal What regenerative agriculture means and how it differs from conventional agriculture Why healthy soil is not just “dirt,” but a living ecosystem filled with microbes, fungi, roots, insects, and organic matter How soil health connects to plant health, nutrient cycling, water retention, and ecosystem resilience Why biodiversity matters above and below ground, from soil microbial communities to crops, pollinators, insects, animals, and humans How regenerative agriculture reframes food systems as regionally specific, community-based, and connected to local ecosystems The connection between food, chemical exposures, the environment, and gene-environment interactions Why the guests see regenerative agriculture as both a practical solution and a hopeful movement How storytelling can help make complex topics like soil science, microbes, farming systems, and climate resilience more accessible Fact Check & Context This episode includes a passionate discussion about regenerative agriculture, pesticides, cancer, fertility, carbon, and soil health. As with many topics at the intersection of environment and health, the science is complex. Here are a few important clarifications and sources for our audience members who want to dig deeper. Cancer Rates The episode references concern about rising cancer rates, including pediatric cancer and cancers in younger adults. The most accurate summary is nuanced. For childhood and adolescent cancers in the U.S., a 2025 analysis found that age-standardized cancer incidence increased from 2001 to 2016, then decreased from 2016 to 2022. Cancer death rates among U.S. youth ages 0–19 also declined 24% from 2001 to 2021, according to CDC/NCHS data. Read the study in Cancer Discovery. At the same time, early-onset colorectal cancer has clearly been increasing. The American Cancer Society reports that colorectal cancer death rates in adults under 50 have increased by about 1% per year since 2004, even as rates have declined among many older adults. Researchers are actively studying potential contributors, including diet, obesity, sedentary behavior, environmental exposures, microbiome changes, and other factors, but there is not one single proven cause. Read more from the American Cancer Society. Pesticides, Epigenetics, and Fertility The episode discusses pesticides and their potential effects on human health. A careful way to frame this is that some pesticide exposures have been associated with biological effects, including possible epigenetic changes and reproductive health concerns, especially at higher or occupational exposure levels.  Risk depends on the specific chemical, dose, route of exposure, timing, and individual susceptibility. For glyphosate specifically, there is disagreement among major scientific and regulatory bodies. The U.S. Environmental Protection Agency states that it does not agree with the International Agency for Research on Cancer’s conclusion that glyphosate is “probably carcinogenic to humans.” EPA’s position is that glyphosate is not likely to be carcinogenic to humans when used according to current labeling, while IARC classified glyphosate as “probably carcinogenic to humans” in 2015. Read EPA’s glyphosate overview. There is also research connecting some pesticide exposures with male fertility markers. A 2022 review found epidemiological evidence supporting associations between pesticide exposure and male fertility outcomes, including semen quality, particularly among workers and exposed populations. Read the review in Toxics. Soil Carbon and Climate Regenerative agriculture and improved soil health can play an important role in carbon storage, water retention, and climate resilience. However, soil carbon sequestration should be understood as one climate tool, not a complete solution on its own. Fossil fuel emissions remain the dominant driver of human-caused carbon dioxide emissions. The Global Carbon Project projected total anthropogenic CO₂ emissions from fossil fuels and land-use change at about 41.6 GtCO₂ in 2024, with fossil CO₂ emissions alone projected at 37.4 GtCO₂. This means land management matters, but reducing fossil fuel emissions remains essential. Read the Global Carbon Budget 2024. Soil Degradation The episode discusses major global soil loss and degradation. A commonly cited estimate from the Food and Agriculture Organization of the United Nations is that nearly one-third of the world’s soils are degraded, posing a serious threat to food security. Soil degradation can include erosion, loss of organic matter, nutrient depletion, contamination, salinization, compaction, and reduced biodiversity. Because estimates vary depending on definitions and measurement methods, overly specific claims about the exact amount of topsoil lost should be interpreted with caution unless tied to a specific source. Read more from FAO. Nutrient Density and Food Quality The film and episode discuss the idea that regenerative agriculture can support more nutrient-dense food. There is emerging research suggesting that soil health, microbial diversity, plant biodiversity, and farming practices may influence nutrient profiles in food. However, this is still an active area of research, and outcomes likely vary by crop, region, soil type, farming system, and measurement method. A 2025 review in Frontiers in Nutrition describes regenerative agriculture as a promising pathway for producing nutrient-dense crops while also noting significant gaps in quantifiable research and policy needed for broader adoption. Read the review in Frontiers in Nutrition. Watch Docuseries  Watch Kiss the Ground on Prime Video (First in Doc Series) Watch Common Ground on Prime Video (Second in Doc Series) Watch Groundswell on Prime Video (Third in Doc Series) Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Recertification is changing for genetic counselors. The American Board of Genetic Counseling (ABGC) now requires completion of new Continuing Competence Learning Scenarios as part of maintaining the CGC credential. These are not traditional quizzes with one correct answer. Each scenario presents a complex genetic counseling situation, followed by reflective questions, peer rationales, and educational resources designed to support lifelong learning and continuing competence. To help us understand why this change was made and what genetic counselors need to know, we are joined by three guests from ABGC: Monica Marvin and Dr. Claire Davis, co-chairs of ABGC’s Continuing Competence Committee, and Heather Rich, Executive Director at Smithbucklin, who manages ABGC operations. We break down why these Learning Scenarios were created, how the requirement works, what counts toward recertification, and how ABGC is approaching competence in a field where many real-world situations are nuanced, reflective, and shaped by context.   In This Episode, We Discuss: Why ABGC reevaluated the recertification process for certified genetic counselors What was missing from a recertification model based primarily on CEUs or reexamination What Continuing Competence Learning Scenarios are, and what they are not How these scenarios differ from traditional quizzes or tests Why there may be more than one thoughtful way to respond to a complex genetic counseling situation How panelist rationales help Diplomates understand the reasoning of other competent practitioners How the new requirement is being phased in based on recertification cycle What genetic counselors in current recertification cycles need to know about voluntary scenario completion How each scenario earns 0.1 CEU and how those CEUs fit into existing recertification requirements How often new Learning Scenarios will be published How scenarios are developed and reviewed by ABGC’s Continuing Competence Committee Why review by the DEIJ Committee is an important part of the process How Learning Scenarios can address complex topics such as bias, cultural humility, access, identity, and patient-centered care Whether future scenarios may expand beyond patient-facing clinical roles to include genetic counselors working as medical science liaisons, variant curators, educators, and other nontraditional roles   The Panel: Monica Marvin, MS, CGC, is the Program Director for the University of Michigan Genetic Counseling Graduate Program and Clinical Professor of Internal Medicine and Human Genetics at the University of Michigan. Monica was the inaugural President of the Michigan Association of Genetic Counselors, the 2011 Chair of the National Society of Genetic Counselors Access and Service Delivery Committee and the 2014 Chair of the National Society of Genetic Counselors Payor Subcommittee. She also served on the Board of Directors for the National Society of Genetic Counselors in 2016 and 2017 and is a current member of the Accreditation Council of Genetic Counselors Program Review Committee. In addition, Monica serves on the Advisory Board for multiple genetic counseling programs, and is the co-chair of the American Board of Genetic Counselors Continuing Competence Committee. She received the 2014 Strategic Leader award from the National Society of Genetic Counselors and was instrumental in the 2018 passage of legislation to license genetic counselors in the state of Michigan. She is passionate about the provision of high-quality genetic counseling services.   Claire Davis, EDD, MS, CGC has contributed to the learning, growth, and development of genetic counselors for 19 years. She received her Master of Science in Genetic Counseling from the Icahn School of Medicine at Mount Sinai in 2007. She earned a doctorate in Adult Learning and Leadership from Teachers College, Columbia University, completing a dissertation on how genetic counselors learn to incorporate innovations into their practice. A deep love of GC education prompted her to serve as a genetic counseling program director, course director, clinical supervisor, thesis advisor, simulation facilitator, committee volunteer, and author of articles and a book. She is currently Director of Curriculum for the Institute for Genomics at Sarah Lawrence College and Co-director of the Genome Health Analysis master’s program co-created with NYU Langone’s Grossman School of Medicine.   Heather Rich, MPA, ICE-CCP, is an Executive Director with Smithbucklin, bringing over 20 years of experience in certification, including oversight of more than 23 credentialing programs. She currently serves as Executive Director for the American Board of Genetic Counseling (ABGC). Ms. Rich possesses extensive expertise across all facets of certification, including governance, program development, and accreditation standards. She has successfully led multiple organizations through reaccreditation processes with both the American Board of Specialty Nursing Certification (ABSNC) and the National Commission for Certifying Agencies (NCCA). In addition to her professional responsibilities, Ms. Rich has been an active volunteer with the Institute for Credentialing Excellence since 2014 and currently serves as a Public Member on the Rehabilitation Nursing Certification Board.   Earn CEUs with Gene Pool Media’s “Listen and Learn” Course Are you a genetic counselor looking to earn CEUs, but struggling to find the time to sit down and complete them? Gene Pool Media has you covered with Listen & Learn: A Rare Disease Podcast Course.  This affordable CEU course allows you to earn credits by listening to a curated playlist of podcast episodes from Gene Pool Media shows, including DNA Today and All Access DNA, and completing a few short quizzes. The course features episodes focused on rare diseases and includes 10 hours of podcast content, meaning you can earn 1.0 CEU. Whether you are commuting, at the gym, or relaxing at home, Listen & Learn makes it easy to learn, reflect, and earn CEUs through the power of storytelling. Visit TheCEUShop.org/podcast to get started. Resources and Links  How to Complete an ABGC Continuing Competence Learning Scenario ABGC Continuing Competence Learning Scenarios ABGC: How to Recertify ABGC Recertification Handbook ABGC Continuing Education Standards ABGC Committees in Action: Recent Developments and Plans ABGC Portal   Related DNA Today Episodes #312 What is a Genome Health Analyst? Exploring NYU and Sarah Lawrence's New Master’s Program (with Dr. Claire Davis)  #295 Genetic Counseling Board Exam Updates with ABGC (with Heather Rich) #235 Genetic Counseling History: ABGC Formation  #138 Genetic Counseling Boards Advice #126 Adam Buchanan on ABGC Boards Exam Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Anxiety is one of the most common mental health conditions, but for many people, it can also feel deeply isolating. Current treatments such as therapy, SSRIs, and benzodiazepines can be life-changing, but they do not work for everyone, and they often manage symptoms rather than addressing the underlying biology of anxiety. In this episode of DNA Today, host Kira Dineen is joined by Dr. Troy Rohn, neuroscientist, professor at Boise State University, and Co-founder and Director of Preclinical Studies at Cognigenics. Dr. Rohn is also the author of Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders, a brand new book exploring how CRISPR, RNA interference, neurogenetics, and precision psychiatry could reshape the future of mental health treatment. We take a deeply personal and scientific look at anxiety. Dr. Rohn shares how his own experiences with chronic anxiety and PTSD helped inspire his work, while also explaining the brain biology behind anxiety, including the roles of serotonin, GABA, the amygdala, hippocampus, insula, and thalamus. A major focus of the episode is the 5-HT2A serotonin receptor, produced through the HTR2A gene, and why this receptor has become an important target in Dr. Rohn’s preclinical research. Kira and Dr. Rohn explore how today’s treatments broadly influence serotonin signaling, while emerging gene-based approaches may someday allow researchers to more precisely reduce or silence specific pathways involved in anxiety. The episode also breaks down the difference between CRISPR gene editing and RNA interference, including why reversibility, safety, off-target effects, and long-term consequences matter so much when discussing potential therapies for the brain. Dr. Rohn also explains one of the biggest challenges in the field: getting therapies across the blood-brain barrier. Because this science is still preclinical, the conversation also focuses on how to talk about hope responsibly. Could gene therapy someday help treat anxiety at its source? Possibly. But there are major scientific, regulatory, ethical, and access questions that need to be answered before these approaches could become part of clinical care.   In This Episode, We Discuss: The lived experience of anxiety, PTSD, and chronic hypervigilance Why anxiety is shaped by both genes and environment How current anxiety treatments work, including SSRIs, benzodiazepines, CBT, and service animals Why SSRIs can help some people but fall short for others The role of serotonin, GABA, and brain circuits in anxiety What the 5-HT2A receptor is and why it matters How the HTR2A gene leads to production of the 5-HT2A receptor protein The difference between broadly changing serotonin levels and targeting a specific receptor pathway How CRISPR could be used to make more permanent DNA changes How RNA interference could offer a more temporary or reversible way to reduce gene expression What preclinical animal studies can and cannot tell us Why the blood-brain barrier is such a major challenge for brain-targeted therapies Ethical questions around using gene therapy for mental health conditions How to balance scientific excitement with caution and realistic expectations   Guest Bio Dr. Troy Rohn is a neuroscientist, professor at Boise State University, and Co-founder and Director of Preclinical Studies at Cognigenics. His research has focused on neurological disorders, including Alzheimer’s disease, anxiety, and memory impairment. In his book Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders, Dr. Rohn explores how gene therapy, CRISPR, RNA interference, and precision psychiatry could open new possibilities for treating anxiety and other brain-based conditions.   About the Book Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders explores the future of mental health treatment through the lens of gene therapy and neurogenetics. Blending personal story with neuroscience, Dr. Troy Rohn examines how technologies like CRISPR and RNA interference may one day allow researchers to target anxiety-related pathways with greater precision than current medications. The book also addresses the scientific and ethical complexities of this field, including safety, access, regulatory approval, the blood-brain barrier, and the challenge of moving from promising preclinical research to human clinical trials.   Key Terms 5-HT2A receptor: A serotonin receptor involved in brain signaling, mood, perception, cognition, and emotional processing. HTR2A gene: The gene that provides instructions for making the 5-HT2A serotonin receptor. SSRI: Selective serotonin reuptake inhibitor, a class of medications commonly used to treat anxiety and depression by increasing serotonin availability in the brain. Examples are Lexapro, Zoloft, Prozac, Paxil, among others.  CRISPR: A gene-editing technology that can be used to make targeted changes to DNA. RNA interference: A process that can reduce or silence gene expression by targeting RNA before a protein is made. Blood-brain barrier: A protective barrier that helps regulate what substances can enter the brain from the bloodstream, making delivery of brain-targeted therapies especially challenging. Blood-brain border might be a more accurate and helpful term as some molecules are allowed past.  Precision psychiatry: An emerging approach that aims to tailor mental health treatment based on a person’s biology, genetics, symptoms, and lived experience.   Resources & Links: Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders by Dr. Troy Rohn Cognigenics   Relevant DNA Today Podcast Episode: #198 CRISPR Ethics with Sam Sternberg #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #304 HBO’s “Six Schizophrenic Brothers” Sister and Advocate Lindsay Mary Galvin Rauch #343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure #354 How Pharmacogenomics is Revolutionizing Drug Prescriptions   Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 395 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

What if we could study melanoma not just cell by cell, but in the exact place those cells live inside the tumor? That is the promise of spatial biology. In this episode of DNA Today, we explore how emerging genomic technologies are transforming melanoma research by allowing scientists to examine not only which cells are present in a tumor, but where they are located, how they interact, and why those relationships matter. May is Melanoma Awareness Month, making this an important time to spotlight how tools like spatial transcriptomics, single-cell sequencing, and multiomics approaches are helping researchers better understand tumor behavior, immune response, and treatment resistance. Joining us are Professors Thomas Tüting and Andreas Braun, German dermatologists and researchers whose work focuses on melanoma, tumor immunology, and translational cancer research. We are also joined by Dr. Jia Hui Khoo, Product Manager at MGI, who brings expertise in spatial biology and the technologies helping make this research possible. Together, we discuss an exciting melanoma research project profiling human melanoma samples from the University Hospital Magdeburg’s biobank, using MGI’s DCSP approach, which spans DNA, cell omics, spatial omics, and proteomics. This work has the potential to deepen our understanding of melanoma biology, tumor heterogeneity, immune landscapes, and the future of precision oncology. In this Episode, We Discuss: How melanoma research and treatment have evolved, especially with the rise of immunology and immunotherapy. Why human melanoma biobanks are so valuable for translational cancer research. How spatial biology helps researchers understand tumors in context, not just as isolated cells. Why the location of cells within a tumor matters for understanding melanoma progression and immune response. How spatial transcriptomics and single-cell sequencing can reveal differences between patients who respond well to immunotherapy and those who do not. What researchers hope to learn by profiling STOmics spatial transcriptomics datasets alongside matched single-cell datasets from human melanoma and mouse models. How MGI’s DNBSEQ and STOmics technologies support oncology research. What MGI’s DCSP approach brings to melanoma research by integrating DNA, cell omics, spatial omics, and proteomics. Why high-resolution spatial technologies like Stereo-seq may be especially important for studying the tumor microenvironment. How multiomics research could eventually inform biomarker discovery, patient stratification, therapeutic development, and the future of human pathology. Guests:  Professor Thomas Tüting, MD is Professor and Chairman of Dermatology at University Hospital Magdeburg in Germany, where his work focuses on tumor immunology, melanoma progression, metastasis, and resistance to cancer immunotherapy. He trained in dermatology at University Hospital Mainz and completed research training in experimental tumor immunology at the University of Pittsburgh. His research has explored how the immune system shapes melanoma biology, including the role of inflammation, tumor plasticity, and the tumor microenvironment in cancer progression and treatment response. In 2024, Professor Tüting was awarded an ERC Synergy Grant with collaborators at Uppsala University to advance immunotherapy research for malignant melanoma and brain tumors, with a focus on the vascular-immune interface and local anti-tumor immune activation.  Professor Andreas D. Braun, MD is a dermatologist and researcher in the Department of Dermatology, Allergology and Venereology at the University Hospital Schlewsig-Holstein in Lübeck. His research centers on melanoma biology, tumor progression, metastatic spread, and mechanisms that influence response or resistance to immunotherapy. Professor Braun has co-authored studies on topics including Hgf-Met and BRAF signaling in melanoma, tumor-intrinsic Toll-like receptor 4 signaling, MHC-I downregulation, CD8+ T-cell infiltration, and metastatic spread in melanoma. His work bridges clinical dermatology and translational cancer research, with a focus on using molecular and immunologic insights to better understand melanoma behavior and treatment response. Dr. Jia Hui Khoo specializes in spatial biology and single-cell technologies. She leads the DCS portfolio at MGI EU&AF, advancing the adoption of spatial biology solutions. DCS represents MGI’s three core technology areas: DNA genomics, cell omics, and spatial omics. She began her work at MGI by leading collaborations using Stereo-seq with research institutions across Europe and now drives product strategy for the company’s spatial multi-omics portfolio.  Resources & Links MGI’s Stereo-seq Technology  MGI’s Spatial Temporal Omics MGI Tech and NUS Pharmacy and Pharmaceutical Sciences Collaborate on Multi-Omics DCS Lab Researchers from Uppsala and Magdeburg obtain an ERC Synergy Grant to advance cancer immunotherapy  Relevant DNA Today Podcast Episode: #392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism #383 Inside the Brazilian Rare Genomes Project #379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Newborn sequencing is no longer just a future-facing idea discussed in genetics circles. It is beginning to take shape through real pilot programs, state policy, and health system efforts exploring how genomics could fit into routine newborn care. In this episode of DNA Today, we take a closer look at one example of that momentum: Florida’s Sunshine Genetics Act. The legislation created a five-year, voluntary newborn genetic sequencing pilot program and established the Sunshine Genetics Consortium. The program allows parents to opt in to newborn genetic screening, including whole genome sequencing. The state allocated millions for the Sunshine Genetics Pilot Program, along with additional funding for the Florida Institute for Pediatric Rare Diseases. To unpack what this could mean for rare disease diagnosis, pediatric genomic medicine, and the future of newborn screening, our host Kira Dineen is joined by Dr. Pradeep Bhide, Director of the Florida Institute for Pediatric Rare Diseases, and State Representative Adam Anderson, who championed the legislation after losing his son Andrew to Tay-Sachs disease at age 4.  About Our Guests Dr. Pradeep G. Bhide is the Jim and Betty Ann Rodgers Eminent Scholar Chair of Developmental Neuroscience, Director of the Florida Institute for Pediatric Rare Diseases, and Director of the Center for Brain Repair at the Florida State University College of Medicine. His work focuses on developmental neuroscience, pediatric rare disease research, precision diagnostics, and advancing treatments for children and families affected by rare genetic conditions. Representative Adam Anderson represents District 57 in the Florida House of Representatives. He sponsored and championed the Sunshine Genetics Act, drawing from his family’s personal experience with rare disease after the loss of his son Andrew to Tay-Sachs disease. Through this legislation, Representative Anderson has helped position Florida as one of the first states to explore how genomic sequencing could be integrated into newborn screening and pediatric rare disease care.  In This Episode, We Discuss: How Representative Anderson’s son Andrew inspired his advocacy for newborn sequencing and rare disease legislation What the Sunshine Genetics Act makes possible for families in Florida How newborn genome sequencing could shorten or prevent the rare disease diagnostic odyssey The role of the Sunshine Genetics Consortium in coordinating researchers, clinicians, geneticists, children’s hospitals, and biotech innovators across the state Why early genomic diagnosis can influence medical management, specialist referrals, surveillance, treatment planning, and access to clinical trials How Florida’s approach fits into the broader global movement toward newborn sequencing, alongside programs such as Genomics England’s Generation Study, GUARDIAN in New York, BeginNGS at Rady Children’s, and NIH-funded BEACONS What “whole genome sequencing” means in the context of this pilot, and how programs may distinguish between sequencing the whole genome and analyzing a targeted set of genes How families may be educated about voluntary participation and informed consent What types of results may be returned to parents and healthcare practitioners How programs are thinking about childhood-onset, treatable, preventable, and potentially adult-onset findings The connection between earlier diagnosis and emerging gene-based therapies What it takes to move complex genomic medicine legislation forward How Florida is building infrastructure for pediatric genomic medicine Which outcomes will matter most as the five-year pilot unfolds, including enrollment, sequencing metrics, clinical impact, public health impact, cost effectiveness, and economic benefits, which are included in the reporting requirements for the program.  Why This Conversation Matters For many families affected by rare disease, the search for a diagnosis can take years. Those years can include specialist visits, inconclusive testing, missed opportunities for early intervention, and emotional strain. Newborn sequencing raises the possibility of identifying certain serious genetic conditions before symptoms appear, allowing families and clinicians to act sooner. At the same time, implementing newborn sequencing brings important questions: What conditions should be included? What results should be returned? How should parents be consented? How will privacy and data use be handled? What infrastructure is needed to support follow-up care? And how can programs ensure equitable access?   Relevant Resources:  “Florida surges to forefront of rare disease research with boost from Sunshine Genetics Act” via Florida State University News “Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via Forbes The Florida Institute for Pediatric Rare Diseases; the Sunshine Genetics Pilot Program; the Sunshine Genetics Consortium The International Consortium on Newborn Sequencing (ICoNS) Florida Institute for Pediatric Rare Diseases at FSU Genomic England’s Generation Study Columbia and New York Presbyterian’s The GUARDIAN study  Rady Children’s Institute for Genomic Medicine’s BeginNGS® Building Evidence and Collaboration for GenOmics (BEACONS) in Nationwide Newborn Screening project via the NIH  Relevant DNA Today Podcast Episode: #172 PhenoTips: Advances in Rare Disease Diagnosis with Dr. Stephen Kingsmore #281 Tay-Sachs with Dr. Matthew Goldstein of JScreen #385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity   Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Despite incredible advances in genetic testing, many patients with suspected rare diseases still spend years searching for answers. In this episode, we explore how whole genome sequencing, paired with emerging multi-omic and multimodal technologies, is helping clinicians move beyond the limits of single-test approaches to deliver clearer, more actionable answers for patients and families. Joining us in person for this conversation are two experts from Baylor Genetics: Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer, and Chris Sands, Chief Growth Officer. You may remember them from Episode 385, where they joined our ACMG recap episode to discuss Baylor Genetics’ announcement around these evolving technologies. In this episode, we discuss the growing momentum behind whole genome sequencing in rare disease diagnosis, why some patients remain undiagnosed even after initial testing, and how layered approaches such as optical genome mapping and long-read sequencing may help close that diagnostic gap. We also talk about how a confirmed diagnosis can affect care management, treatment access, and clinical trial eligibility for patients and families. Topics Covered:  The growing role of whole genome sequencing in rare disease diagnosis How healthcare systems and clinical practices are adopting genome sequencing How whole genome sequencing is changing pediatric patient care Why some patients remain undiagnosed after initial WGS testing The current diagnostic gap in rare disease genetics Efforts underway to improve diagnostic yield What a multimodal and multi-omic approach looks like in practice How optical genome mapping and long-read sequencing complement WGS How labs determine when to layer on additional technologies The real-world impact of a confirmed diagnosis on treatment and trial access About Dr. Christine Eng: Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics. She also serves as Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. About Chris Sands: Chris Sands is the Chief Growth Officer at Baylor Genetics, where he works closely with healthcare systems, providers, and institutions to expand access to advanced genetic testing. He brings a strong strategic and commercial perspective to the evolving role of genome sequencing in clinical care, particularly in supporting adoption of new technologies that can improve the diagnostic journey for rare disease patients. Relevant Resources:  Learn more about Baylor Genetics here Baylor Genetics Enhances Whole Genome Sequencing Test with Optical Genome Mapping and Long‑Read Sequencing as Supplemental Technologies Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention” Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282. Undiagnosed Disease Network   Relevant DNA Today Podcast Episode: #358 AGBT Precision Health 2025 Meeting Recaps and Reflections  #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey #385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity #376 Why Females with Fabry Disease Aren’t “Just Carriers”   Connect With Us:  Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What if one of the biggest assumptions in genetics is also one of the most incomplete? We often talk about DNA as though it is a stable blueprint, a fixed set of instructions inherited at conception and carried unchanged throughout life.  But in Beyond Inheritance, science journalist Roxanne Khamsi challenges that idea in a profound way, arguing that our genomes are far more dynamic, unstable, and biologically creative than most of us realize.  In this episode, Roxanne Khamsi dives into the science and implications of mutations that arise after conception, the spontaneous, somatic, and mosaic genetic changes that shape our tissues, immune systems, brains, aging process, and risk for disease.  We talk about how these changes complicate the idea of inherited disease, how cancer can be understood through evolution, why some mutations are harmful while others may actually rescue disease, and what all of this means for the future of medicine.  In This Episode, We Discuss: Why DNA should not be viewed as static What somatic mutations are and why they matter The concept of mosaicism and what it means that every human is a mosaic How Darwinian evolution can happen within the body How mutation supports antibody diversity and immune defense Clonal hematopoiesis and its links to cardiovascular disease and aging Phenocopies and how spontaneous mutations can mimic inherited disease Cases where cells appear to self-correct through additional mutations Whether mutation accumulation may help drive aspects of aging   The Guest: Roxanne Khamsi is an author, speaker, contributing writer for The Atlantic, and award-winning science journalist whose work has appeared in The New York Times, Nature, Scientific American, WIRED, and National Geographic. In Beyond Inheritance, she draws on more than two decades of reporting at the intersection of genetics and medicine to take readers through cancer biology, immune diversity, clonal hematopoiesis, somatic mosaicism, germline mutation, aging, and even microbial evolution, revealing mutation not as an occasional error, but as a constant force shaping life from within. Learn more on her website here.   Genetic Conditions Mentioned: Progeria Werner syndrome  Hyper IgM syndromes Adenosine deaminase severe combined immune deficiency (ADA-SCID) VEXAS syndrome  ​​Paroxysmal nocturnal hemoglobinuria (PNH)  Duchenne muscular dystrophy (DMD) Genetic History Timeline Referenced: 1881 - "Der Kampf der Theile im Organismus" (The Struggle of the Parts in the Organism) is published by Wilhelm Roux and read by Charles Darwin  1916 - Ernest Tyzzer  first used the term ‘somatic mutation’ with respect to a tumour 1953 - Rosalind Franklin's Photo 51 led to the discovery of the structure of DNA by James Watson and Francis Crick  1970s - The foundational X-inactivation studies in Paroxysmal Nocturnal Hemoglobinuria (PNH), notably the work by Oni, Osunkoya, and Luzzatto provided crucial evidence that PNH is a clonal disease arising from a somatic mutation in a hematopoietic stem cell 2003 - First draft of the human genome is announced complete.     Relevant Papers: Early somatic mosaicism is a rare cause of long-QT syndrome Variations have been identified in up to 20% of all cases of autism, with a single mutation in a single gene being largely responsible for driving critical neurodevelopmental differences.  The role of somatic mutations in endometriosis: pathogenesis, progression, and fibrogenesis  How Symptoms of Rare Diseases Can Mimic Common Conditions states rare disease patients average two to three misdiagnoses before their accurate diagnosis.  Trisomy rescue    Science Fiction Recommendations - Genetics Edition Kira’s Favorite - Orphan Black Roxanne’s Favorite - Gattaca Relevant DNA Today Podcast Episode: #110 Gattaca, 22 Years Later #134 Dr. Kat Arney on Cancer Evolution #202 Duchenne Muscular Dystrophy (DMD) with Ann Martin and Madhuri Hegde #250 Orphan Black: The Next Chapter with Madeline Ashby #297 Ambry Genetics Exome Reanalysis with Dr. Elizabeth Chao and Kelly Hagman #306 NIH’s Dr. Francis Collins on the Human Genome Project, and the Future of Genetics #351 Mock Cardiac Genetic Counseling Session (Long QT Syndrome) #365 Ending HIV, Accelerating COVID: Dr. Larry Corey’s Legacy in Vaccine Science   Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal.  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Kidney disease affects more than 1 in 7 adults in the United States, yet many people do not realize they are at risk until symptoms become serious. For some patients, kidney disease is tied to rare or genetic causes, making diagnosis and treatment even more complex. In this episode of DNA Today, we explore focal segmental glomerulosclerosis (FSGS), APOL1-mediated kidney disease (AMKD), and the real-life impact of navigating a rare kidney disease diagnosis as a young adult. Joining the show is Emani McConnell-Brent, who shares her personal experience living with FSGS, from early symptoms and delayed diagnosis to the emotional toll of learning her kidney disease is genetic. Also featured is Dr. Pranav Garimella, Chief Medical Officer at the American Kidney Fund, who explains the science behind FSGS, when genetic testing for conditions such as AMKD should be considered, and why earlier recognition of kidney disease symptoms can make such a meaningful difference. Together, they discuss the importance of listening to patients, not dismissing early warning signs like protein in the urine, and improving access to genetic evaluation for people with unexplained kidney disease or a family history of kidney problems. Emani also opens up about how kidney disease changed her daily life, from monitoring her blood pressure and swelling to adjusting her plans, energy, and expectations as a young adult. Her story is a powerful reminder that earlier diagnosis does not just impact medical management,  it can also shape a person’s mental health, future planning, and sense of control. The episode also highlights the work of the American Kidney Fund, including its mission to support people living with kidney disease through education, advocacy, prevention, and resources for both patients and healthcare providers. In This Episode, We Discuss: What focal segmental glomerulosclerosis (FSGS) is How FSGS affects kidney function Emani McConnell-Brent’s journey to diagnosis The role of APOL1 genetic risk variants in kidney disease Why persistent protein in the urine should not be overlooked When genetic testing may be appropriate in kidney disease evaluation The mental health and lifestyle impact of chronic kidney disease in young adults How the American Kidney Fund supports patients, families, and providers About the Guests Emani McConnell-Brent is a full-time student at Bowie State University majoring in psychology. She is an advocate for kidney health and mental health. Despite Emani’s diagnosis of focal segmental glomerulosclerosis (FSGS) in 2020, she has invariably displayed ambition, resilience and transparency. She refuses to allow her diagnosis or any lifelong outcomes to dictate her success. Instead, she views her diagnosis as an opportunity for advocacy and education. Emani has since devoted her platform to telling her story and to bringing awareness to APOL1-mediated kidney disease and health disparities among African Americans.    Dr. Pranav Garimella, MBBS, MPH, FASN, joined the American Kidney Fund as its first Chief Medical Officer in January 2025. A board-certified nephrologist and nationally recognized leader in rare kidney diseases, he also serves at UC San Diego Health as Director of Acute Dialysis Services and the Polycystic Kidney Disease Center of Excellence. Dr. Garimella is an accomplished researcher focused on kidney function, cardiovascular disease, bone health, and mortality, with NIH-funded work and more than 110 peer-reviewed publications. He is also a trained epidemiologist, frequent journal reviewer, and fellow of the American Society of Nephrology.  Resources Mentioned: American Kidney Fund (AFK)  AKF's Unknown Causes of Kidney Disease Project AKF’s Continuing education opportunities  AKF’s Explanation of APOL1-mediated kidney disease (AMKD)  Emani McConnell-Brent’s Instagram and LinkedIn advocacy  MedlinePlus’ Page on focal segmental glomerulosclerosis (FSGS)   Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this special episode of DNA Today, Kira Dineen sits down with Mayte Garcia — artist, author, internationally acclaimed dancer, actress, singer, choreographer, philanthropist, and the former wife of Prince — for a deeply personal conversation about love, loss, legacy, and the rare genetic condition Pfeiffer syndrome type 2. You may know Prince as one of the most influential musicians of all time, but in this episode, we step beyond the public image and into a far more intimate story: Prince and Mayte as expectant parents, the profound love they shared for their son Amiir, and the devastating medical journey that followed after his birth. Mayte reflects on pregnancy, the bond she and Prince formed with Amiir before he was born, the difficult decisions they faced, and what it meant to navigate a rare diagnosis in the 1990s before information was as accessible as it is today.  Kira also provides helpful context on Pfeiffer syndrome, including its genetics, symptoms, and why Amiir’s diagnosis of the severe type 2 form carried such serious medical challenges. This conversation also explores grief — both private and public — as Mayte shares what it was like to mourn Amiir while under the intense pressure of public life. She offers moving insight for parents who feel pressure to hide their pain, and reflects on how writing her memoir, The Most Beautiful: My Life with Prince, became part of her healing. The episode closes on legacy: not only Prince’s legacy as a global music icon, but his humanitarian spirit and the work that continues through Live 4 Love Charities, the nonprofit founded in memory of Amiir and rooted in Prince’s philanthropic vision. This month marks 10 years since Prince passed away, and also 30 years since their son Amiir died. Mayte is honoring them both through a special Live 4 Love Charities Glam Slam Benefit in Los Angeles on April 21st, 2026. We Discuss: Prince and Mayte’s bond with Amiir during pregnancy Why they declined amniocentesis during the pregnancy What Pfeiffer syndrome type 2 is and how it differs from other forms The genetics of Pfeiffer syndrome, including FGFR2 and de novo variants The medical complexity of Amiir’s care after birth Prince as a father behind the public persona Grief, public image, and the pressure to “perform” wellness Mayte’s memoir and why she chose to tell this story The legacy of Amiir Prince’s humanitarian legacy beyond music Mayte’s leadership of Live 4 Love Charities The upcoming Glam Slam Benefit on April 21st honoring Prince’s life and impact About Mayte Garcia Mayte Garcia is a Puerto Rican dancer, choreographer, actress, singer, author, and philanthropist. A professional belly dancer since age three, she became internationally known as Prince’s muse, collaborator, featured dancer for the New Power Generation, and later his first wife. She is the author of the memoir The Most Beautiful: My Life with Prince. Mayte has appeared in numerous film and television projects, including Hollywood Exes, Army Wives, Psych, The Closer, and Nip/Tuck. She now leads Live 4 Love Charities, continuing a mission rooted in compassion, service, creative empowerment, and honoring the legacy of both Prince and their son, Amiir, who died from a genetic condition called Pfeiffer Syndrome.  Resources & Links Mayte Garcia’s memoir: The Most Beautiful: My Life with Prince Live 4 Love Charities Love In Action Program Stillborn And Infant Loss Support (S.A.I.L.S.), receipt of a $10,000 donation from the Love in Action Program. You can watch Mayte Garcia call the program to break the good news here.  Live 4 Music Program Live for Dance Program  Glam Slam Benefit Tickets Pfeiffer Syndrome: MedlinePlus’ Page  NORD Page Born A Hero, Research Foundation for all FGFR conditions    Relevant DNA Today Podcast Episode: #281 Tay-Sachs with Dr. Matthew Goldstein (regarding his late daughter Havi) #315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally (regarding Dr. Leibman’s late niece)    Upcoming Live 4 Love Charities Event on April 21st On April 21, 2026, Live 4 Love Charities will host its Glam Slam Benefit at the W Hollywood, an evening dedicated to celebrating Prince’s lasting cultural and philanthropic legacy. The event will feature performances by Paisley Park alumni, joined by the Mpls All Star Band made up of former Paisley Park musicians, with additional special guests including Taylor Dayne, Sheila E, and more to be announced. Now led by Mayte Garcia, Live 4 Love Charities continues the mission Prince began: uplifting communities through compassion, creative empowerment, youth development, arts education, and healing. Through programs like Live 4 Dance and Live 4 Music, the organization helps mentor and empower the next generation of young artists. You can get tickets for their Grand Slam Benefit here.  Learn more about the charity and the Glam Slam Benefit here: https://live4lovecharities.org/   Connect With Us:  Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Danon disease is a rare, X-linked metabolic disorder that strikes at the heart of cellular function. Caused by mutations in the LAMP2 gene, it disrupts the body’s ability to clear cellular waste (autophagy), leading to devastating and often life-threatening cardiac complications. Because the disease is so rare, understanding its natural progression, and how to stop it, is the current "North Star" for researchers and clinicians alike. In this episode, we are joined by two world-renowned experts to discuss the current landscape of Danon disease research: Dr. Barry Greenberg and Dr. Cordula Wolf. We dive deep into the mechanics of the disease, the importance of the LAMPLIGHT-NH observational study, and the groundbreaking LAMPLIGHT-2 interventional gene therapy trial. Meet the Experts Dr. Barry Greenberg (US): A pioneer in heart failure research and Director of the Advanced Heart Failure Program at UC San Diego. Dr. Cordula Wolf (Germany): A leading expert in pediatric cardiology and congenital heart defects, specializing in the clinical management of metabolic cardiomyopathies. Understanding the Disease Course Danon disease is fundamentally a "traffic jam" at the cellular level. Without a functional LAMP2 gene, lysosomes cannot fuse with autophagosomes, leading to a buildup of cellular debris. The Impact: This manifests primarily as hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. The Cardiac Threat: For many patients, especially males, the disease progresses rapidly toward end-stage heart failure or sudden cardiac death, often requiring heart transplants at a young age. Resources & Clinical Trial Links If you are treating a patient with a confirmed or suspected LAMP2 pathogenic variant, your referral to a study site can change the trajectory of their care. Observational (LAMPLIGHT-NH) Best for gathering data without changing current management. Natural History Study (LAMPLIGHT-NH): ClinicalTrials.gov NCT06214507 Interventional (LAMPLIGHT-2) A Phase 2 trial for those meeting specific cardiac and age requirements. Interventional Study (RP-A501): ClinicalTrials.gov NCT06092034 Official Study Website: LAMPLIGHT Studies   Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

What happens when a rare, devastating genetic condition impacts not just one person in a family, but three siblings? In this episode of DNA Today, we’re joined by siblings Faith Sinclair and Dan Peach who both have sialidosis.  Sialidosis is a rare lysosomal storage disorder that often leaves families searching for answers for years. Faith and Dan share their deeply personal journey with the condition, from the initial struggles of seeking a diagnosis for their brother, Antonn, to the cutting-edge gene therapy research currently underway.   Inside This Episode: The Diagnostic Odyssey Faith and Dan share the emotional impact of living with Sialidosis and the long road to a definitive diagnosis. We explore the uncertainty that many rare disease families face and how receiving an answer after years of "red flags" reshaped their lives. Understanding Sialidosis (The Science) We break down the clinical and cellular mechanics of Sialidosis. We discuss: The role of the NEU1 gene and how mutations lead to cellular dysfunction. The two primary forms of the condition (Type I and Type II) and their clinical presentations. Why Sialidosis is frequently misdiagnosed or overlooked by clinicians. Daily Life & Advocacy What does it look like to manage a rare condition day-to-day? Faith offers a candid look at the balance between medical management and the psychosocial burden on patients and siblings. Dan discusses how his personal and familial connection fueled the mission of Cure Sialidosis. The Future of Treatment: Gene Therapy We look toward the horizon of rare disease research. Sialidosis is currently entering the pre-clinical gene therapy stage, where the goal is to correct the NEU1 gene. Dan provides an update on the status of enzyme replacement and the global drive to raise funds for manufacturing the treatments required for human trials scheduled for 2026.   About Our Guests: Dan Peach is a founding member of Cure Sialidosis and a board member of Cure Mucolipidosis. As one of five siblings, three of whom were affected by Sialidosis, his connection to the disorder is profound. Since helping facilitate the diagnosis of his brother Antonn and sister Faith, Dan has become a dedicated patient-researcher. He leads a global community of patients, clinicians, and researchers, collaborating worldwide to address the root causes of the disease and improve outcomes for all affected. Faith Sinclair is a patient advocate living with Sialidosis, and sister to Dan. Her journey from years of medical uncertainty to a definitive diagnosis has made her a vital voice in the rare disease space, dedicated to sharing the unique perspectives of patients and their families.     Relevant Resources:  CureSialidosis.org Kiwi siblings battling rare genetic condition Sialidosis therapy: Kiwi siblings fundraise for injection against disease that killed brother - NZ Herald    More Lysosomal Storage Disorder Episodes on DNA Today: #380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I #376 Why Females with Fabry Disease Aren’t “Just Carriers”  #372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy #292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research) #281 Tay-Sachs with Dr. Matthew Goldstein #171 Farber Disease with Aceragen    Connect With Us:  Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this special live recording from The University of Connecticut’s 2026 Rare Disease Symposium, host Kira Dineen, moderates a powerful panel featuring individuals living with rare conditions. The conversation moves beyond clinical diagnostics to explore the "hidden work" of navigating the healthcare system, the trauma of medical dismissal, and the fierce advocacy required to survive and thrive in a complex medical landscape. Shoutout to the lead organizer Anthony Zuo for putting this conference together.    The Panel (in order of appearance)    David (Dave) Leeds: Lives with Hereditary Angioedema (HAE) with normal C1 inhibitor (specifically the HS3ST6 gene mutation), a type of HAE that affects fewer than 20 people worldwide. He also advocates for his son, who has Specific Antibody Deficiency.   Kate Tokarski: A social worker and former paramedic living with three conditions: vitiligo, type 1 diabetes, and SUNCT syndrome (short-acting unilateral neuralgiform headache with conjunctival injection and tearing). She navigates a "rare family" dynamic, including children affected by gastroparesis, keratoconus, juvenile arthritis, celiac disease, ampfield pain syndrome, COPA syndrome, and median arcuate ligament syndrome.    Jill Gassman Zullo: Lives with Sinus Nasal Mucosal Melanoma, a rare cancer affecting less than 1% of the population. She is the author of Brokenly Beautiful.    Jonathan Cappiello: After 20 years of having a misdiagnosis, he was correctly identified as having a nano-rare disease, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. He is also the host of 1 of 20 podcast.   Topics Discussed  The Burden of Expertise A recurring theme is the "expert patient." Panelists describe the exhaustion of knowing more about their conditions than the providers treating them. Kira emphasizes the importance of medical professionals being comfortable saying, "I don't know," rather than muddling through an answer. Navigating the Emergency Room David describes the danger of ER protocols. For HAE patients, standard allergy treatments like EpiPens and steroids do nothing for their Bradykinin-based swelling, which can be fatal if it affects the throat. The panel discusses "Medical PTSD" and why the ER is often a place of last resort. The Battle with Insurance and Systems Kate shares a heartbreaking story of "Systemic Trauma": The Insurance Loop: Her daughter was denied a life-changing medication due to a bureaucratic glitch. The School-to-Court Pipeline: Because she missed school due to her autoimmune crises, Kate was reported for neglect, and her 16-year-old was read her Miranda Rights in family court for being a "truancy outlier." The Power of Community and Storytelling Jonathan discusses his journey as a science podcaster, using his background in film and journalism to give a platform to others with rare diagnoses. The panel highlights how storytelling is a form of survival and a tool for systemic change.   Relevant Resources:  Jill Gassman Zullo’s book Brokenly Beautiful Jonathan Cappiello’s podcast 1 of 20 podcast Kate Tokarski’s poem I Was 'That Mom'  National Organization for Rare Disorders (NORD) Undiagnosed Disease Network (UDN) Genetic and Rare Diseases Information Center (GARD)   Relevant Rare Disease Patient Advocacy Stories on DNA Today: #380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy #372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases #342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency Connect With Us:   Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

What does it mean to truly care for a child with achondroplasia beyond just their growth differences? Achondroplasia is the most common form of skeletal dysplasia, but it is so much more than height. Children and adults with achondroplasia can have medical complications that require lifelong monitoring and the need for lifelong multidisciplinary care. This is the second episode in our three-part series on achondroplasia, sponsored by BioMarin. In our first episode, (Episode 359 of DNA Today) Dr. Janet Legare helped us explore the basics of achondroplasia and the role of genetics in diagnosis and family counseling. In this conversation, we’re shifting the focus to what living with achondroplasia actually looks like day to day, from managing medical complications to coordinating care across multiple specialties. Joining us is Dr. Ricki Carroll, a complex care and palliative care physician on the multidisciplinary skeletal dysplasia team in Delaware. Dr. Carroll brings expertise in providing a medical home for children with skeletal dysplasias, with a special focus on pain and symptom management. She also co-leads a skeletal dysplasia consultative service, and her training in bioethics adds a unique perspective on delivering compassionate, individualized care. In This Episode, We Discuss Building a Medical Home What a “medical home” means for children with achondroplasia Common concerns families raise after a new diagnosis, beyond height Supporting families early while planning for long-term care Co-Morbidities & Clinical Complications Key conditions clinicians should monitor in infants and children, including: Foramen magnum stenosis Hydrocephalus Sleep apnea ENT issues like recurrent ear infections and hearing loss Orthopedic challenges such as kyphosis, spinal stenosis, and bowed legs How chronic pain presents and is managed across childhood and adulthood Living With Achondroplasia How medical needs evolve from childhood into adolescence and adulthood The role of fatigue, mobility limitations, and accessibility in daily life Balancing medical care with childhood independence and normalcy Under-recognized burdens that significantly affect patients and families Multidisciplinary Care in Practice What a full skeletal dysplasia care team looks like How palliative care supports symptom management, decision-making, and quality of life Coordinating care across specialties like orthopedics, neurosurgery, ENT, and audiology Preventing communication breakdowns between providers Helping families navigate complex choices around interventions and surgeries Looking Ahead Gaps in current care models for achondroplasia How emerging treatments are changing long-term planning conversations Key takeaways for providers who may only occasionally care for patients with achondroplasia   Our Guest Dr. Ricki Carroll: Dr. Ricki Carroll is a complex care and palliative care physician on the skeletal dysplasia and palliative care teams at a hospital in Delaware. Dr. Carroll works to provide a medical home and manage care for children with a wide array of skeletal dysplasias. Her background in palliative medicine allows her to focus on pain and symptom management needs for these children, teens and young adults. Dr. Carroll also leads the skeletal dysplasia consultative service, providing care for infants and children with skeletal dysplasias who are in the hospital. Additionally, drawing upon her Master’s in Bioethics, she is currently serving as co-Chair of an Ethics and Patients’ Rights Committee.   Achondroplasia Resources:  Little People of America (LPA)  Dwarf Athletic Association of America (DAAA)  International Achondroplasia Forum  Achondroplasia GeneReviews  Achondroplasia Growth Charts Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435.  Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010 Nadia Merchant, Julie Hoover-Fong, Ricki S Carroll, Approach to the Patient with Achondroplasia—New Considerations for Diagnosis, Management, and Treatment, The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 7, July 2025, Pages e2309–e2316, https://doi.org/10.1210/clinem/dgaf017    Relevant Skeletal Dysplasia DNA Today Episodes:  #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer  #301 Dwarfism with Colleen Gioffreda  #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders)  #359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains (Biomarin’s Sponsored Series First Installment)   Be on the lookout for our third and final episode in this series about achondroplasia sponsored by BioMarin.    Connect With Us: Luckily, you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference!    We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is helping to sift through all the data provided by WGS by prioritizing variants so genomic analysts can find the causative variant faster. We wrap up by talking about how all these tools can be ethically used to advance equity in genomic testing.   Our episode is broken into three segments…   Baylor Genetics’ announce their Enhanced Whole Genome Sequencing with their Chief Medical Officer and Chief Quality Officer, Dr. Christine Eng and their Chief Growth Officer Chris Sands Illumina teaches us about their variant interpretation software that utilizes AI with a staff product marketing manager, Talia Silver and a senior staff medical science liaison, Dr. Livia Loureiro Ambry Genetics discusses advancing equity in genomic testing with a Clinical Strategy Manager in Medical Affairs, Carrie Horton, and their Translational Genomics Director for Rare Diseases, Dr. Seth Berger    Relevant Resources:    Baylor Genetics Segment Resources:  Baylor Genetics Announces Enhanced Whole Genome Sequencing Test Baylor Genetics’ Enhanced Whole Genome Sequencing Technologies  AAP Guidelines: Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay   Illumina Segment Resources:  Genomewide Sequencing Ontario Project  Illumina’s Emedgene variant interpretation software  Illumina’s Grand Rounds in Genomic Medicine  Genome Aggregation Database (gnomAD)    Ambry Genetics Segment Resources:  Ambry Genetics’ Patient for Life website and white paper Ambry Genetics’ Announcing Their One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield  Dr. Seth Berger’s publication last week on “Identification of de novo variants from parent-proband duos via long-read sequencing” in the American Journal of Human Genetics  Ambry Genetics’ publication in January 2026 on “Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access”   Relevant DNA Today Podcast Episode: #182 Eric Green on the Complete Human Genome Project #231 ChatGPT and AI In Genetics with Daniel Uribe #285 AI To Enhance Variant Curation with Daniel Uribe #297 Exome Reanalysis with Ambry Genetics #303 RNA Analysis with Ambry Genetics #325 Revolutionizing Variant Curation with MAVEs #334 ACMG 2025 Recap #358 AGBT Precision Health 2025 Meeting Recaps and Reflections #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey   Upcoming Conferences: In November, we will be back in Baltimore for the 2026 National Society of Genetic Counselors (NSGC) annual conference, but before that we have a few other conferences on the books. Check out our conference schedule so far for 2026… Advances in Genome Biology and Technology (AGBT) Precision Health in September in San Diego  Podcast Movement in September in New York City  American Society of Human Genetics (ASHG) in October in Montreal National Society of Genetic Counselors (NSGC) in November in Baltimore     Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Except when a conference ends on a weekend ;) Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Despite our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics. While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare diseases. Joining for this in-person podcast episode is Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, and Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. Topics Covered in This Episode: RNAseq 101: What RNA sequencing is and how it complements DNA sequencing. Splicing Abnormalities: What RNAseq can reveal that DNA sequencing may miss. Clinical Impact: Real-world examples, including a case where RNAseq reclassified a VUS and changed patient care. Diagnostic Yield: How often Baylor Genetics sees clinical benefit from RNAseq. Workflow Questions: Should RNAseq be a reflex after WES/WGS fails to identify a pathogenic variant? Technical Realities: Key challenges including tissue type, RNA quality, and turnaround time. When Results Are Inconclusive: How to handle unexpected or unclear RNA findings. Beyond RNAseq: How multi-omics (including transcriptomics and metabolomics) are beginning to integrate into clinical practice. Implementation Barriers: Challenges to scaling multi-omic testing in routine labs. Future of Clinical Genomics: Dr. Eng’s predictions for RNAseq and multi-omics adoption over the next decade. Resources & Links: Learn more about Baylor Genetics here Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention” Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282. Undiagnosed Disease Network   Relevant DNA Today Podcast Episode: #358 AGBT Precision Health 2025 Meeting Recaps and Reflections   Connect With Us:  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].   

As Rare Disease Month comes to a close and Rare Disease Day approaches, we are turning our focus beyond the United States to explore what rare disease care looks like in Brazil, and how genomics is reshaping the diagnostic journey.   In this episode, we take a deep dive into the rare disease landscape in Brazil, including how patients access genetic testing within a public healthcare system, the barriers families face compared to those in the U.S., and how whole genome sequencing (WGS) is accelerating diagnoses that once took years or even decades.   Joining us is Dr. João Bosco de Oliveira Filho, a physician-scientist who helped lead Brazil’s national rare disease genomics initiative, Genomas Raros, and now continues this work through his laboratory, NeoGenomica. We’re also joined by Victor Camillo from MGI, who shares a global technology perspective on how large-scale sequencing efforts can expand access to rare disease diagnostics, especially in middle-income countries.   Together, we discuss: How rare disease care in Brazil compares to the U.S. Why whole genome sequencing is a game changer for undiagnosed patients Lessons learned from national-scale genomics initiatives The role of public–private partnerships in sustaining innovation What the future holds for rare disease diagnostics worldwide Relevant Resources:  MGI Tech MGI’s Sequencing Platforms  NeoGenomica NeoGenomica implements the world's most powerful genetic test, focusing on accuracy and speed in diagnoses. 100,000 Genomes Project by Genomics England Coelho, A. V. C., Mascaro-Cordeiro, B., Lucon, D. R., Nóbrega, M. S., de Souza Reis, R., Bertollo de Alexandre, R., Moura, L. M. S., Oliveira, G. S., Guedes, R. L. M., Caraciolo, M. P., Zurro, N. B., Cervato, M. C., & Oliveira, J. B. (2022). The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. Frontiers in Molecular Biosciences, 9, Article 821582. https://doi.org/10.3389/fmolb.2022.821582 Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. PMID: 38838312; PMCID: PMC11350637.   Relevant DNA Today Podcast Episode: #285 AI To Enhance Variant Curation with Daniel Uribe #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel with MGI  #379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing with MGI   Connect With Us:  Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We are ecstatic to finally share that our host Kira Dineen is also hosting a brand new podcast that just launched, The Persistence Lab.    This podcast, sponsored by AbbVie, pulls back the curtain on the hard, human work of health care innovation. Each episode dives into a real problem in medicine or health care and follows the people who are working to develop solutions. With immersive sound design and a three-act structure that puts story first, this series showcases the fresh thinking, bold ideas, and the unexpected paths that help turn optimism into outcomes. For U.S. audiences only.   To celebrate the launch we are sharing the first episode with you here on DNA Today, but be sure you are following The Persistence Lab on your favorite podcast platform using this link!  Don’t miss all the episodes this season!    In this first episode of “The Persistence Lab,” we set out to answer, can we find cures faster?    Our health and well-being impact every element of our lives. For patients with some of the most difficult-to-treat medical conditions, a cure is what they’re hoping for. How can we accelerate drug development to spur progress and turn bold ideas into real breakthroughs? The Persistence Lab launches with this episode to look at how AbbVie is empowering scientists to boldly rethink what it means to cure disease and accelerate care for patients. Please note that this episode is intended for U.S. audiences only.     Episode Discussion Topics: The importance of clear definitions: functional vs. complete cures Why developing universal medical cures is incredibly complex  The role of clinical trials in developing potential medical cures How AbbVie’s Pathway to Cures program fosters collaboration and innovation The transformative impact of precision medicine and reverse translation How AI, machine learning, and digital tools are helping scientists in the discovery and development of potential therapies The emotional and practical significance of potential medical cures for patients and scientists Relevant Resources:  Listen to The Persistence Lab AbbVie: Pathway to Cures AbbVie: Can We Find Cures Faster Article AbbVie: AI & Data Convergence   Don’t forget to follow The Persistence Lab on your favorite podcast platform using this link!  

In celebration of Charles Darwin’s birthday on February 12th, we participated in Humanists and Freethinkers of Fairfield County’s (HFFC) of Connecticut’s Darwin Day event! HFFC brought together science nerds to learn about evolution. In this special live episode of DNA Today, we’re sharing highlights from HFFC’s 18th Annual Darwin Day Dinner in Connecticut, a celebration of curiosity, science, and scientists held the Saturday before Darwin’s birthday on February 12th. Our host Kira Dineen led a live fireside chat with the keynote speaker from the distinguished evolutionary biologist Dr. Johan Peter Gogarten. She also introduced Senator Richard Blumenthal who gave a speech about the importance of science now more than ever.  Dr. Gogarten, a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut, is known for his groundbreaking work on the early evolution of life, horizontal gene transfer, and rooting the Tree of Life. His research has transformed how scientists understand microbial evolution and the complex genetic relationships that connect all living organisms. This episode captures select moments from the live Darwin Day program, where we explore how Charles Darwin’s famous concept of the “entangled bank” still shapes modern evolutionary biology, and where today’s science has gone far beyond what Darwin could have imagined. Together, Kira Dineen and Dr. J Peter Gogarten discuss what Darwin got right about natural selection, what modern genomics has revealed about rapid evolutionary change, and why horizontal gene transfer continues to reshape our understanding of how life evolves. The conversation also touches on real-world applications, from antibiotic resistance to emerging genetic technologies, and how curiosity drives scientific discovery across generations. The evening also featured reflections on the importance of science, humanism, and evidence-based thinking, highlighting the enduring relevance of Darwin’s ideas in today’s world.   Topics Discussed In This Episode: An introduction to Darwin’s life, his voyage on the HMS Beagle, and the creation of On the Origin of Species Exploration of natural selection and Darwin’s enduring influence on modern biology How the understanding of genetics, from Mendel to genomics, expands Darwin’s theories The role of horizontal gene transfer in microbial evolution and its significance Highlights from Connecticut’s 2026 Darwin Day celebration Charles Darwin’s “entangled bank” and its relevance today What Darwin got right—and what modern science has updated Natural selection at the gene level vs. organism level Why evolution isn’t always gradual: rapid change and hybridization Horizontal vs. vertical gene transfer explained How viruses, bacteria, and other mechanisms move genes across species The role of horizontal gene transfer in microbial evolution Real-world implications for medicine, antibiotic resistance, and biotechnology How curiosity and early inspiration shape scientific careers The importance of science communication and public engagement   About Our Guest: Dr. Johan Peter Gogarten is a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut. His research focuses on the early evolution of life, horizontal gene transfer, and selfish genetic elements. Dr. Gogarten is widely recognized for rooting the Tree of Life and for identifying horizontal gene transfer as a major force in microbial evolution. His work has been funded by the National Science Foundation, NASA’s Exobiology Program, and the Israel-U.S. Binational Science Foundation. He is a fellow of the American Academy of Microbiology and a member of the Connecticut Academy of Science and Engineering.   About the Event: This episode was recorded live at HFFC's 18th Annual Darwin Day Dinner, held February 7th, 2026. The event celebrated Charles Darwin’s legacy through science, discussion, and community, featuring a keynote presentation by Dr. Johan Peter Gogarten on evolution within Darwin’s “tangled bank” and the complex genetic relationships that connect life on Earth.  Please join us at next year’s event which will be held in February 2027 in Connecticut. Stay tuned for more details through the show, or directly on the Connecticut Darwin Day website.    Relevant Resources:  Gogarten Lab at The University of Connecticut Dr. Johann Peter Gogarten’s LinkedIn Page “Charles Darwin: History’s Most Famous Biologist” via Natural History Museum  International Darwin Day Foundation  The Connecticut Darwin Day website Event Host: Humanists and Freethinkers of Fairfield County (HFFC) in Connecticut HFFC’s Podcast, Humanism Today Relevant DNA Today Podcast Episode: #100 Carl Zimmer on Human Heredity  #134 Dr. Kat Arney on Cancer Evolution #335 Neanderthals, Denisovans, and Us: How DNA Reveals Evolution Gene Pool Media: The Science Podcast Network: DNA Today and Humanism Today are shows on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below! Humanism Today RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  Parálisis Cerebral Respuestas Gods and Genes Rare Rebels If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at [email protected]. We’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today.    Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

To kick off Rare Disease Month we are thrilled to share the pilot of the newest podcast in our Gene Pool Media science podcast network, Rare Rebels.    The Rare Rebels™ Podcast shares raw, unscripted conversations with patients, caregivers, researchers, and advocates who are changing the future of rare disease. Through these real voices, Rare Rebels builds understanding, inspires action, and drives change.   The host Melody Joy Paine is a thought provoking and empathic interview. It is not surprising that she has won multiple awards for her storytelling and advocacy work.    In this episode, a rare disease dad and advocate, Mark Dant, tells the story of his son, Ryan, being diagnosed with Mucopolysaccharidosis Type I, and the scientist Dr. Emil Kakkis whose persistence changed their lives.    In This Episode:    Mark Dant’s personal journey as a parent advocate after his son Ryan’s diagnosis with MPS I Being told “nothing can be done” and choosing to challenge that narrative Navigating rare disease advocacy before the internet, social media, or established drug development pathways Teaching himself medical and scientific concepts without formal training Early advocacy tactics: medical dictionaries, libraries, conferences, and cold outreach Building a nonprofit organization from the ground up to support research and families The fragmented healthcare and research system rare disease families faced in the 1990s The critical role of relationships in advancing rare disease research Mark’s partnership with physician-scientist Dr. Emil Kakkis and how trust fueled progress Bridging families, clinicians, and researchers to accelerate treatment development The path to developing the first treatment for MPS I How one family’s advocacy changed outcomes for future patients Parents as drivers of innovation in rare disease Persistence, collaboration, and problem-solving in the absence of clear systems Enduring lessons for today’s rare disease community and advocates   Gene Pool Media: The Science Podcast Network: Rare Rebels is the newest show on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  Parálisis Cerebral Respuestas Humanism Today Gods and Genes If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at [email protected]. We’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today.  Relevant Resources:  Rare Rebels Website Rare Rebels on Spotify Rare Rebels on Apple Podcasts  MedlinePlus’ Mucopolysaccharidosis type I (Hurler Syndrome) Page Genetic Rare Disease Information Center: Mucopolysaccharidosis Type 1 Page Gene Reviews’ Mucopolysaccharidosis Type I Page Dr. Emil Kakkis Developing Enzyme Replacement Therapy for MPS I The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) National Organization For Rare Disorders (NORD) EveryLife Foundation For Rare Diseases Relevant DNA Today Podcast Episode: #171 Farber Disease with Aceragen (also a lysosomal storage disorder)  #292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research) #372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy #376 Why Females with Fabry Disease Aren’t “Just Carriers” (Also a lysosomal storage disorder)  #378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

As we approach World Cancer Day on February 4th, this episode of DNA Today takes a global look at how cancer diagnostics are evolving, not just in research settings, but in real-world clinical laboratories where innovation must meet reliability, scalability, and patient impact. In this conversation, we bring together three experts from around the world working at the intersection of oncology diagnostics, sequencing technology, and clinical implementation. Joining us from Portugal is Dr. Jorge Lima of IPATIMUP, one of Europe’s leading oncology centers known for its research-driven diagnostic mission. From Italy, Bernard Okere joins us as a Field Application Scientist at MGI Tech, a company providing a full spectrum of sequencing platforms and automation solutions for life science and clinical laboratories worldwide. And from China, we’re joined by Nancy Yang, International Senior Business Development Manager at Gene+, a genetic testing and precision oncology company behind one of the largest oncology gene panels currently in clinical use. Together, we explore how IPATIMUP has implemented large-scale DNA and RNA sequencing, including Gene+’s 1,021-gene DNA panel and RNA sequencing, to expand diagnostic confidence while maintaining rigorous clinical standards. This episode dives into validation, automation, workflow design, and cross-company partnerships, offering a behind-the-scenes look at how modern oncology labs grow without compromising quality. In This Episode, We Discuss Setting the Stage: IPATIMUP’s Role in Oncology How IPATIMUP fits into Europe’s oncology landscape Why a research-driven approach is central to its diagnostic mission From Research to Routine Diagnostics Translating research findings into clinical workflows Balancing innovation with responsibility in patient-facing diagnostics Choosing the Right Technology Partner Why IPATIMUP selected MGI sequencing platforms What differentiates MGI’s technology in oncology applications The importance of flexibility across DNA and RNA testing Why long-term technical collaboration matters beyond installation Large Gene Panels in Clinical Practice How Gene+ selected the 1,021 genes included in its oncology panel Real-world experience using large DNA and RNA panels in routine diagnostics Why the Gene+ panel pairs effectively with MGI’s sequencing platforms What it takes to move from validation to clinical implementation RNA Sequencing as a Diagnostic Advantage How RNA sequencing complements DNA-based testing in oncology When RNA sequencing provides the most clinical value How RNA data can increase diagnostic confidence in complex cases Automation, Scale, and Quality Why automation is essential for high-throughput oncology labs Reducing hands-on time and minimizing human error Practical advice for labs looking to scale while maintaining consistency and quality   Relevant Resources:  IPATIMUP MGI Tech MGI’s Sequencing Platforms  Gene+ (Website currently under construction)   Relevant DNA Today Podcast Episode: #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle” #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel   Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past five years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

February 3rd, 2026 Update: The U.S. House of Representatives passed it! Now, the bill heads to the President’s desk, where we expect him to sign it into law. This means the NIH is scheduled to receive $48.7 billion in funding (a 1% or $415 million increase over 2025). Therefore the 40% budget cut of NIH was rejected, and instead there will be a 1% increase in funding (as long as the President signs it).   January 30th, 2026 Update: Another wonderful update, the U.S. Senate passed legislation that advances top priorities for the rare disease community, including strong medical research funding for the National Institutes of Health (NIH) and across the federal government. The next step for the bill is to go back the U.S. House of Representatives for final passage. Urge your representatives to pass this legislation, MDA made it easy to do so here.    January 24th, 2026 Update: Great news, the House of Representatives passed legislation providing strong funding for medical research at the National Institutes of Health (NIH). The next step is for the Senate to pass this legislation, the vote is scheduled for the week of January 26th.  Urge your senators to pass this legislation, MDA made it easy to do so here.  Our host Kira Dineen already reached out to her congressmen in Connecticut, Senators Chris Murphy and Richard Blumenthal, to support the vote scheduled to happen the week of January 26th, 2026. After you reach out to your senators, post it on social, and tag us (@DNATodayPodcast) and MDA (@mdaorg) so we can repost you!    ------------------------------------------------------------------------------   What happens to rare disease families when federal research funding slows down, or gets cut? In this breaking news, bonus episode of DNA Today, we’re digging into what NIH funding cuts mean in real terms: delayed clinical trials, fewer research dollars for ultra-rare conditions, and a slower path from discovery to treatment.    We’re joined by Paul Melmeyer, who serves as the Executive Vice President, Public Policy and Advocacy, at the Muscular Dystrophy Association (MDA). In this role, Paul leads MDA’s policy and advocacy initiatives pertaining to public health, therapeutic development, access to care, and disabilities. Prior to joining MDA, Paul spent over six years with the National Organization for Rare Disorders (NORD). At NORD, Paul led the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy. Paul also holds a Master of Public Policy (MPP) from the George Washington University.   We unpack what’s happening in Washington DC in late January 2026, what it could mean for neuromuscular disease research, and more generally the rare disease community, and what we can do about it.    In This Episode, We Discuss What’s Actually Happening With NIH Funding Why the phrase “NIH cuts” understates the real-world impact on patients and families What proposed reductions for Fiscal Year 2026 could mean for rare disease research How grant freezes, terminations, and delayed renewals disrupt active studies and clinical trials Why Rare Disease Research Is Especially at Risk Why rare disease programs are more sensitive to funding instability than common conditions The difference between slowed progress and permanent loss for progressive neuromuscular diseases How NIH funding supports the entire pipeline—from basic science and natural history studies to biomarkers and trials What happens when labs lose funding: loss of expertise, momentum, and institutional knowledge Neuromuscular Disease Research in 2026 Where neuromuscular research stands today and what breakthroughs are closest to patients Which types of studies are most vulnerable to funding cuts How NIH investment influences industry confidence and pharmaceutical partnerships in ultra-rare diseases Policy Realities & Misconceptions How to explain to policymakers that cutting research now increases long-term healthcare costs later Common misconceptions about NIH funding and why rare disease research can’t simply “pause and restart” Advocacy: What You Can Do Right Now The most effective actions for advocates engaging Capitol Hill today What makes a patient or family story resonate with lawmakers and staffers How collective advocacy protects not just future discoveries, but lives happening right now Relevant Resources:  Click here to urge you senators to pass legislation this week to support the NIH (mda.org/supportNIH). The bill now moves to the Senate for consideration the week of January 26th, 2026.   MDA Advocacy Landing Page MDA Advocacy Action Center Donate to MDA MDA's X Page MDA's Instagram Page Request MDA Services  We Work For Health    Relevant DNA Today Podcast Episode: #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #327 How Patient Advocacy is Changing Rare Disease Research #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (including NIH changes with former NHGRI Director Dr. Eric Green)   Connect With Us:  Usually we release new episodes on Friday, but since this was so timely we released it as a bonus episode. You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What happens when a loved one is trying to age at home, their memory is changing, and their medications suddenly start causing more harm than help? In this episode of DNA Today, we’re talking about aging in place, memory care, and an often-overlooked piece of the puzzle, how someone’s genetics can affect the way they respond to medications later in life. Our guest is Michele Magner, a Certified Dementia Practitioner, caregiver advocate, and educator who works closely with families navigating dementia, chronic illness, and the emotional realities of caregiving. With deep experience in senior living, gerontology, and family coaching, Michele helps people prepare not just for what’s happening now, but for what comes next. We’ll explore how pharmacogenomics fits into home-based elder care, why medication reactions are so common in older adults, and how caregivers can better advocate for safer, more personalized care. On This Episode We Discuss: Aging in Place & Memory Care What families are most concerned about when trying to keep a loved one at home How memory-related illnesses change caregiving compared to physical limitations alone Common misconceptions about the progression of cognitive decline What “successful aging in place” realistically looks like Medication Challenges in Older Adults Why polypharmacy is so common—and so risky—in later life How medications that once worked well can become problematic over time Real-world examples of unexpected medication reactions in individuals with memory changes Why older adults are especially vulnerable to side effects, particularly with cognitive impairment Pharmacogenomics, Explained for Caregivers What pharmacogenomics (PGX) is and how to explain it to families in practical terms Why genetic-informed prescribing can become relevant later in life, even if medications were previously tolerated How PGX may help prevent medication-related crises before they happen PGX in Home-Based Memory Care How pharmacogenomics could reshape medication decisions for dementia care Medication categories that often raise red flags in older adults How genetic insights may help protect individuals who can’t clearly report side effects Advocacy, Access & System Gaps Barriers families face when trying to access PGX-informed care How caregivers can request medication reviews without feeling confrontational Where healthcare systems often fall short of the realities families manage at home Looking Ahead What it would mean to routinely integrate pharmacogenomics into elder care Michele’s key message for caregivers navigating medications, memory care, and aging in place Our Guest:  Michele Magner has a passion for connecting with people as we navigate the adventures of aging and caregiving! As an experienced family caregiver, with many years in the Senior Living industry, she understands the challenges we are facing as we age and care for those we love. Michele sets people up for success so they are inspired to thrive, not just survive, this one big, beautiful, and complicated life. Michele has earned her M.B.A., Masters Certification in Gerontology and is a Gerontology Ph.D. student at UNO. She is a Certified Life Coach, Certified Dementia Practitioner, and Certified Conscious Aging facilitator. Michele is an Adjunct Professor at Creighton University, teaching Long Term Care Administration. She serves on 2 Board of Directors, the Alzheimer’s Association NE Chapter and The Bloc. Inc. Michele also contributes to the Dreamweaver Foundation, making wishes for people in senior living come true. She continues to share fresh content and ideas through her Inspired Caring podcast and programs, in addition to private and group coaching. Relevant Resources: Need Health?  UChicago News: Women are overmedicated because drug dosage trials are done on men, study finds ClinPGx Sequence2Script The PREPARE Study Table of Pharmacogenomic Biomarkers in Drug Labeling The Clinical Pharmacogenetics Implementation Consortium (CPIC®) Relevant Papers: Roncato R, Bignucolo A, Peruzzi E, Montico M, De Mattia E, Foltran L, Guardascione M, D'Andrea M, Favaretto A, Puglisi F, Swen JJ, Guchelaar HJ, Toffoli G, Cecchin E. Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial. JAMA Netw Open. 2024 Dec 2;7(12):e2449441. doi: 10.1001/jamanetworkopen.2024.49441. PMID: 39641926; PMCID: PMC11624585.   van Marum RJ. Underrepresentation of the elderly in clinical trials, time for action. Br J Clin Pharmacol. 2020 Oct;86(10):2014-2016. doi: 10.1111/bcp.14539. Epub 2020 Sep 9. PMID: 32909294; PMCID: PMC7495271.   Zucker I, Prendergast BJ. Sex differences in pharmacokinetics predict adverse drug reactions in women. Biol Sex Differ. 2020 Jun 5;11(1):32. doi: 10.1186/s13293-020-00308-5. PMID: 32503637; PMCID: PMC7275616. Relevant DNA Today Podcast Episode: #108 Dr. Becky Winslow on Pharmacogenomics #174 Pharmacogenomics with Fulgent Genetics #229 Pharmacogenomics with Avni Santani #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists)  #354 How Pharmacogenomics is Revolutionizing Drug Prescriptions #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (Talked about PGx with chemotherapy)  Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What does Fabry disease really look like across patients—and why is it so often misunderstood? In this episode of DNA Today, we’re taking a deep dive into Fabry disease, a rare X-linked lysosomal storage disorder with highly variable presentations, especially between genders. Joining us is Dr. Amy Kritzer, a clinical geneticist and a leading expert in metabolic disorders in Boston, Massachusetts. We explore why the “carrier” label doesn’t apply to females, the challenges of delayed diagnosis, and the importance of cascade screening for families. We want to thank Amicus Therapeutics for sponsoring this episode and point out that our conversation is intended for U.S. healthcare professionals.  Topics Covered in This Episode What Fabry disease is and how it affects the body. The impact of Fabry’s X-linked inheritance on clinical presentation. Why the term “just a carrier” is misleading for females or people with two X chromosomes. Variability in disease expression among females and key clinical cases. Classic vs. later-onset Fabry phenotypes and diagnostic challenges. Common signs and symptoms that often go unrecognized. Barriers leading to delayed diagnosis and under-recognition. Benefits of early detection and cascade family screening. Managing variants of uncertain significance (VUS) in the GLA gene. Limits of genotype–phenotype correlations in Fabry disease. Psychosocial challenges for families living with a Fabry diagnosis. Advice for clinicians and genetic counselors evaluating potential Fabry patients. Resources & Links The brand new website, FindingFabry.com has additional information and resources.  Amicus’ website here also has information about Fabry disease.  Patients’ stories about living with Fabry disease.  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

What drives scientific discovery, and how do those discoveries evolve into treatments that transform lives? In this in-person episode of DNA Today, we’re exploring the human side of science: the curiosity, collaboration, and persistence that fuel discovery. This episode is part of a special partnership with The Advanced Portfolio from Wiley, a collection of world-leading scientific journals bridging disciplines to accelerate progress in biology, genetics, and medicine. We’re joined by two guests whose careers beautifully reflect the bridge between innovation and impact: Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics. Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified. Topics Covered In This Episode:  The stories behind scientific breakthroughs and what fuels discovery How collaboration across disciplines accelerates innovation Translating genetic discoveries into real-world therapies The role of publishing and open science in driving progress How journals are adapting to promote transparency and reproducibility Advice for early-career researchers balancing ambition with sustainability The evolving landscape of global collaboration in science How AI and automation are transforming both research and publishing The ethics and equity considerations of AI-driven science The importance of representation and global voices in genomics Key Takeaways True innovation thrives on collaboration—across labs, disciplines, and continents. Publishing isn’t the end of science; it’s a catalyst for connection and progress. Bridging basic discovery to clinical application requires persistence and shared purpose. Transparency, communication, and mentorship are essential to the next wave of breakthroughs. Relevant Resources:  Wiley Advanced Portfolio  Wiley’s Journal Finder Genetics and Genomics: Advanced Science Collection  Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections Wiley's AI guidelines for Authors Wiley’s ExplanAItions 2025: The evolution of AI in research What Makes a Successful Submission Wiley Blog Post Eligibility for access to Research4Life  Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering   Relevant DNA Today Podcast Episode: #337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors #345 How To Talk About DNA Without Losing People: Strategies Part 1 #350 How To Talk About DNA Without Losing People: Strategies Part 2 #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding (Drs. Bhoj and Hu were also guests)    Connect With Us:  Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

What if we looked at genetic testing not just as a tool, but as a story unfolding through eras of innovation, access, and personal meaning?  To explore the genetic testing landscape over the last couple decades we are joined by a fellow podcaster Rome Madison, who is also a precision medicine expert and longtime industry leader with extensive experience working in diagnostics and precision medicine.  Rome has trained sales teams, helped launch groundbreaking cancer diagnostics, and now hosts Genetics for Healthcare: A Podcast for Patients. He’s here to share not only how genetic testing has evolved across different eras, but also his personal connection to the field and why he’s committed to ensuring patients benefit from the genomic revolution.   On This Episode, We Discuss:   Setting the Stage: Rome’s Personal Journey How Rome entered the genetics and diagnostics space shortly after the Human Genome Project What motivates his continued work at the intersection of innovation, patients, and access Why confidence, curiosity, and communication matter in fast-changing scientific fields The Early Era: Post–Human Genome Project What diagnostics felt like in the early 2000s Early pharmacogenomics and predicting chemotherapy response Barriers to adoption, including cost, infrastructure, and skepticism The Growth Era: Expansion of Genetic Testing How cancer diagnostics and precision medicine began shaping standard care Shifts in how clinicians and patients talked about risk and prevention Lessons learned about equity, access, and unmet expectations The Current Era: Precision Medicine Goes Mainstream What distinguishes today’s genetic testing landscape from earlier eras Ongoing challenges around affordability, access, and education The role of podcasts and science communication in empowering patients Looking Ahead: The Next Era of Genetic Testing What might define the next wave: RNA, epigenomics, microbiome, multi-omics Where AI and advanced data analytics fit into future care models Why collaboration across pharma, diagnostics, advocacy groups, and patients is essential Whether population-wide genetic testing could become routine in the years ahead   About the Guest Rome Madison helps people and organizations in the life science industry increase confidence, embrace uncertainty and navigate chaos to rise and win in the market. With over 20 years of experience leading sales teams and go-to market strategy for successful start-ups and new products, Rome has Unreasonable Confidence that cancer and other chronic genetic diseases can be prevented, detected early, treated effectively and cured.   Rome has given more than 500 live speeches and is a charismatic virtual presenter that keeps your audience glued to the screen and engaged with his content. He has appeared on more than 50 TV and radio shows across the US as a precision medicine expert, and has been a featured speaker at the Consumer Electronics Show on The Future of Healthcare.   Rome’s podcast, Genetics for Healthcare: A Podcast for Patients, unites major healthcare stakeholders to close the gap of innovation and patient access to precision medicine. He is co-creator and host of the award-winning Precision Medicine Podcast, Google’s #1 rated podcast on the topic of next-generation cancer care, with listeners in over 108 countries. Relevant Resources:  Genetics for Healthcare Podcast Hosted by Rome Madison  American Lung Association; EGFR and Lung Cancer  Breast Cancer Research Foundation; HER2-Positive Breast Cancer: Testing, Treatment, Research Fierce Biotech; Labcorp picks up Invitae portfolio for $239M in bankruptcy sale The Guardian; 23andMe’s founder wins bid to regain control of bankrupt DNA testing firm National Comprehensive Cancer Network Guidelines  The Patient Will See You Now Book by Dr. Eric Topol (Kira was right, it was published 10 years ago!)   Relevant DNA Today Podcast Episode: #145 Greenwood Genetic Center on Epigenetics #182 Eric Green on the Complete Human Genome Project  #358 AGBT Precision Health 2025 Meeting Recaps and Reflections #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice #362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This is our sixth installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor Charlotte Close and student Marcely Ventura perform a mock genetic counseling session. The session indication is an abnormal newborn screening result for cystic fibrosis.    This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.    We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service. The Actors: Marcely Ventura (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ventura is a graduate of Hunter College with a B.A. in Human Biology. Ventura is the first recipient of the Lauren Ryan Genetic Counselor Access Memorial Award. This award celebrates Lauren Ryan’s legacy of advancing equity in genetic counseling and supports students from underrepresented communities. As a first-generation Hispanic college graduate, she is passionate about increasing access to genetic counseling for diverse communities and addressing health disparities. The premise of this mock case was part of her internship with DNA Today.     Charlotte Close, MS, CGC (she/her) is a certified genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center (CUIMC) and a member of the multidisciplinary cystic fibrosis care team at CUIMC. She is passionate about improving access to genetic counseling services and has worked with the Cystic Fibrosis Foundation, other cystic fibrosis genetic counselors, and cystic fibrosis care team members from across the country to achieve this goal through policy changes, service delivery innovation, and educational efforts. In addition to her clinical work, Close contributes to the Graduate Program in Genetic Counseling at Columbia University by supervising students, mentoring research projects, and serving as a course director. She also serves as a Director on the New York State Genetics Taskforce. She received her Bachelor of Science in Microbiology from the University of Michigan and her Master of Science in Human Genetics from Sarah Lawrence College.    Mock Session Information: Session Indication: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. The patient’s mother, Mary, is attending the appointment.  Case Details: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing.   Patient Name: Liam Ventura  Parent Names: Mary and Sam Ventura   Medical History: Pregnancy: Uncomplicated Full term (39 wks) via NSVD No exposures or complications reported Normal prenatal ultrasounds Newborn Screening: Elevated immunoreactive trypsinogen (IRT) Two CFTR variants identified on screening panel Development: Appropriate for age Growth: Slightly below weight percentile Symptoms: Mild cough, parents believe it’s due to the change of weather Specialists Seen: Pediatrician only so far Medications/Treatments: None currently Therapies: None currently Family History: Ancestry: Dad- Irish  Mom- Af. American No consanguinity, birth defects, or known genetic conditions No history of cystic fibrosis or early infant deaths One paternal cousin with male infertility   Prior Carrier Results:  Dad- F508del Carrier  Mom- Negative …. After first visit with Multidisciplinary team following variant is identified: c.1675G>A p.A559T    Pediatric Mock Session Outline   Contracting Greetings and introductions Reason for referral to genetic counseling (positive newborn screening for CF) Overview of session and what will be discussed: “I’m going to ask a lot of questions about when Liam was in your belly, up until now, as well as medical and family history questions just to make sure we have a full picture and aren’t missing anything. After that Dr.X will come in and do a physical/sweat test on Liam and we can talk about genetic testing options, how does that sound/any questions before we get started?”    Address patient questions or concerns such as: “What does this mean for our baby?” “Does this mean he has cystic fibrosis?” “Could this happen again in another pregnancy?” “Did we do something to cause this?” Medical Intake Review pregnancy and delivery history Review newborn history Review of systems with focus on: Respiratory symptoms Digestive symptoms and growth patterns Frequency of infections Developmental milestones and any delays noted by parents Medications, supplements, or current therapies   Family History Construct a three-generation pedigree Ask about consanguinity, early childhood deaths, chronic respiratory or digestive issues, and male infertility Determine if any relatives have known carrier status for CF or other genetic conditions Patient Education: Overview of Genetics Explanation of autosomal recessive inheritance Each parent is likely a carrier of one CFTR gene variant With each pregnancy: 25% chance for a child with CF 50% chance to be a carrier 25% chance to be unaffected and not a carrier Cystic Fibrosis Overview Genetic condition that can affect the lungs and digestive system Caused by variants in the CFTR gene that affect how mucus and other secretions function Range of possible symptoms from mild to more significant depending on variants involved (explain variable expressivity) Genetic Testing Discussion Both parents previously had carrier testing done, dad came back with a variant and mom did not.  Testing options:  CFTR gene sequencing and deletion/duplication analysis for mom: c.1675G>A p.A559T variant is found afterwards Sample collection: Blood or saliva Results: Positive: Confirms CF diagnosis  Testing Process Turnaround time: 2–4 weeks Informed consent and shared decision-making Recommendations and Next Steps Proceed with diagnostic testing for Liam Offer CFTR gene sequencing to parents Coordinate follow-up once results are available, will call once results are available Provide educational resources on CF and genetic testing Discuss implications for future pregnancies   Relevant Cystic Fibrosis Genetic DNA Today Episodes: #147 CF Series: Bijal Trivedi on "Breath From Salt" #148 CF Series: Shuling Guo on Pharmaceuticals #149 CF Series: Boomer Esiason’s Son Gunnar on Patient Advocacy   Previous installments of our Mock Genetic Counseling Session series: Episode #311: Cancer Session for Breast and Prostate Cancer Family History Episode #317: Prenatal Session for Advanced Maternal Age Episode #331: Pediatric Session for Autism Episode #351: Cardio Session for Sudden Death of A Family Member  Episode #368: Prenatal Session for Increased Nuchal Transluency  Disclaimer: Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory.    Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].   

What do you do when your family is faced with a rare disease that has no cure, and every day truly matters? In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time. Our guest is Kristin McKay, Executive Director of Project Alive, a nonprofit organization dedicated to accelerating treatments, expanding access to care, and supporting families impacted by Hunter syndrome. Kristin’s advocacy is deeply personal: she lost her brother, Zachary, to Hunter syndrome, and today her son, Charlie, is living with the condition. Kristin joins us to share what Hunter syndrome is, how it progresses, and how her family’s journey shaped her leadership and advocacy. We discuss the urgent need for effective treatments, the promise and uncertainty surrounding emerging gene therapies, and what families experience when regulatory delays impact a disease where time is not a luxury. This conversation highlights both the science behind Hunter syndrome and the human cost of delay, along with the resilience of a community that continues to push forward fueled by hope. On This Episode, We Discuss:   Understanding Hunter Syndrome (MPS II) What it means to have a metabolic disorder and how MPS II affects the body Common symptoms and how the disease progresses over time The variability in presentation and severity among individuals A Family’s Journey Through Hunter Syndrome Kristin’s experiences growing up with a brother affected by Hunter syndrome Losing Zachary and later receiving the diagnosis for her son, Charlie How these experiences shaped her perspective as both a parent and an advocate Project Alive: Mission, Growth & Impact The origins and mission of Project Alive Key initiatives supporting research, families, and advocacy How the organization balances funding science, supporting families, and influencing policy Gene Therapy & the RGX-121 Delay Why RGX-121 is considered a promising potential one-time gene therapy for Hunter syndrome What the FDA’s Prescription Drug User Fee Act (PDUFA) date extension means for patients and families The emotional and practical impact of regulatory delays in ultra-rare diseases What changes could help expedite review processes for rare disease therapies Advocacy, Equity & Access How Project Alive amplifies the voices of a small but urgent patient community Strategies for engaging policymakers and industry partners Lessons the broader rare disease field can learn from this advocacy model Looking Ahead & How You Can Help What listeners can do to support Project Alive Opportunities for advocacy, awareness-building, and community engagement Relevant Resources:  Project Alive MedlinePlus’ Mucopolysaccharidosis type II (Hunter syndrome) Page The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) Royalty pens $275M financing deal for Denali drug awaiting delayed FDA decision FDA pushes back PDUFA date for Regenxbio's Hunter syndrome gene therapy JCR Pharmaceuticals Announces the Achievement of Enrollment in the JR-141 Global Phase III Clinical Trial A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT) FDA News Release: FDA Advances Rare Disease Drug Development with New Evidence Principles Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K. Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002. PMID: 35662814; PMCID: PMC9142692. The Precision Medicine Initiative launched by President Obama  It Happened To Me Podcast Episode #16 ALS with Brook Eby (Kira referred to this being a DNA Today episode, she misremembered doing an episode drop on DNA Today, but maybe that means we should in the future)  National Organization For Rare Disorders (NORD) EveryLife Foundation For Rare Diseases STAT News: 1 in 10 Americans have a rare disease, but few have treatments Cystic Fibrosis Foundation’s Venture Philanthropy Model Kim, Esther and Lo, Andrew W., Venture Philanthropy: A Case Study of the Cystic Fibrosis Foundation (April 23, 2019). Available at SSRN: https://ssrn.com/abstract=3376673 or http://dx.doi.org/10.2139/ssrn.3376673 Denali Therapeutics Drug Pipelines (including MPSII)  Researchers estimated that 42% of Americans over age 55 will eventually develop dementia.  NIH research (lead by Dr. Francis Collins) leads to first FDA-approved treatment for progeria   Relevant DNA Today Podcast Episode: #147 CF Series: Bijal Trivedi on "Breath From Salt" #149 CF Series: Gunnar Esiason on Patient Advocacy #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #327 How Patient Advocacy is Changing Rare Disease Research #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference, we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while building a global support community for families affected by this ultra-rare condition. Geana presented at NERGG alongside her son’s geneticist, Katherine Anderson, MD, from the University of Vermont Medical Center. Together, they highlighted current research, care strategies, and the lived experiences behind Cockayne Syndrome, a condition still deeply misunderstood and vastly under-recognized. On This Episode We Discuss: Parenting a Child with Cockayne Syndrome: Lack of carrier screening during IVF. Genetic aspects and impact on DNA repair. Different types of Cockayne Syndrome and their symptoms. Tailored Care for Ronan: Importance of specific growth charts and dietary considerations. Role of a supportive community and foundation efforts. Overlap with Other Disorders: Similarities with other DNA repair disorders. Importance of awareness and advocacy. Support and Encouragement: Message to families and caregivers about community support. Emphasis on shared experiences and advocacy.   Relevant Resources:  Cockayne Syndrome Foundation TikTok: @HopeForCS Instagram: @HopeForCS Facebook  Cockayne Syndrome Page on MedlinePlus  Trichothiodystrophy (TTD) on MedlinePlus   Cockayne Syndrome: A Manual for Healthcare Providers Cockayne Syndrome: A Manual for Parents and Caregivers Growth Chart: Cockayne Syndrome Type 1 and Type 2 The National Initiative for Cockayne Syndrome (NICS)  Amy and Friends MRI Lego Set  Midnight Sun (Kira mentioned this movie with Bella Thorn depicting Xeroderma Pigmentosum) Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PMID: 38808024; PMCID: PMC11129329.   Relevant DNA Today Podcast Episode: #39 Sun Kissed & Kardashian's Genetic Testing (Xeroderma Pigmentosum) #327 How Patient Advocacy is Changing Rare Disease Research #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases   Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026.    The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper.    Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green.    In this reflective conversation, Kira Dineen, Dr. Sarah Tishkoff, and Dr. Eric Green discuss the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference and NIH grant cuts.  Top 2025 Papers With Genomic Medicine Advancements Gene Therapy  CRISPR base editing delivered repeatedly by lipid nanoparticles is effective and safe Utility of a high-activity variant in gene therapy for hemophilia B  Promising phase 2 trial of CRISPR-based therapy for hereditary angioedema Oral pre-mRNA modifiers improve outcomes in presymptomatic spinal muscular atrophy Sequencing Long-range genome sequencing enhances rare disease variant detection Long-read genome sequencing identifies diagnostic variants  Exome sequencing in critical illness is useful in adults as well as children  Other Utility of pharmacogenomics in chemotherapy for GI cancers  Polygenic risk score disclosure reduces adverse cardiovascular events  Preimplantation genetic testing reduces risk of mtDNA diseases  The Guests:    Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the Perelman School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Perelman School of Medicine.   Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, metabolic, and immune related traits, and how humans have adapted to diverse environments and diets. She plays an active role as an advocate for the inclusion of global populations in human genetics and genomics research.   Dr. Tishkoff is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern Award, the Wilbur Cross medal from Yale, the Vanderbilt Prize in biomedical sciences and a Penn Integrates Knowledge (PIK) endowed chair. She is President of the American Society of Human Genetics, is on the Scientific Advisory Board for the Packard Fellowships in Science and Engineering and is on the editorial boards at Cell and PLOS Genetics.   Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been appointed by then-NIH director Dr. Francis Collins in 2009. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Throughout his career, Dr. Green has authored and co-authored over 390 scientific publications. As NHGRI director, Dr. Green led the Institute's research programs and other initiatives. Under his guidance, the Institute has completed two major cycles of strategic planning to ensure that its research investments in genomics effectively advance human health. The first effort yielded the highly cited 2011 NHGRI strategic vision, “Charting a course for genomic medicine from base pairs to bedside” (Nature 470:204-213, 2011); the second yielded the 2020 paper ”Strategic vision for improving human health at The Forefront of Genomics” (Nature 586:683-692, 2020).   With the rapidly expanding scope of genomics research, Dr. Green has also led NHGRI’s close coordination with other components of NIH, agencies and organizations. Dr. Green has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. These efforts include multiple NIH Common Fund Programs — such as the Undiagnosed Diseases Network, Human Heredity and Health in Africa (H3Africa), and the Human Microbiome Project — the Smithsonian-NHGRI exhibition Genome: Unlocking Life's Code, several trans-NIH data science initiatives, the NIH Genomic Data Sharing Policy and the NIH All of Us Research Program.    Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981 and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined.    While directing an independent research program for just over two decades, Dr. Green was at the forefront of efforts to map, sequence and understand mammalian genomes. His work included significant, start-to-finish involvement in the Human Genome Project. These efforts eventually blossomed into a highly productive program in comparative genomics that provided important insights about genome structure, function and evolution. His laboratory also pursued human genetics studies and identified and characterized several human disease genes, including those implicated in certain forms of hereditary deafness, vascular disease and peripheral neuropathy. Dr. Green has received countless awards, most recently the 2025 ASHG Leadership Award where he received a much deserved standing ovation.  Quick Fact Check:  Kira estimated there were 30 or 40 genes in the mitochondria, she was in the ballpark, there are 37 genes.    Additional Papers Referenced:  (In order of appearance)    Hobbs HH, Cohen JC, Horton JD. PCSK9: From Nature's Loss to Patient's Gain. Circulation. 2024 Jan 16;149(3):171-173. doi: 10.1161/CIRCULATIONAHA.123.064498. Epub 2024 Jan 16. PMID: 38227713; PMCID: PMC10874118.   Musunuru K, Urnov F. Moving Therapeutic Genome Editing into Global Clinical Trials and Medicine. CRISPR J. 2025 Aug;8(4):228-231. doi: 10.1089/crispr.2025.0049. Epub 2025 May 22. PMID: 40397097.   Gurevitz C, Bajaj A, Khera AV, Do R, Schunkert H, Musunuru K, Rosenson RS. Gene therapy and genome editing for lipoprotein disorders. Eur Heart J. 2025 Sep 15;46(35):3420-3433. doi: 10.1093/eurheartj/ehaf411. PMID: 40600248; PMCID: PMC12448413.   Logsdon, G.A., Ebert, P., Audano, P.A. et al. Complex genetic variation in nearly complete human genomes. Nature 644, 430–441 (2025). https://doi.org/10.1038/s41586-025-09140-6   Visscher, P.M., Gyngell, C., Yengo, L. et al. Heritable polygenic editing: the next frontier in genomic medicine?. Nature 637, 637–645 (2025). https://doi.org/10.1038/s41586-024-08300-4   Lapinska S, Pimplaskar A, Shi Z, Ding Y, Frydman-Gani C, Hou K, Venkateswaran V, Boulier K, Olde Loohuis LM, Pasaniuc B. Exploring depression treatment response by using polygenic risk scoring across diverse populations. Am J Hum Genet. 2025 Aug 7;112(8):1877-1891. doi: 10.1016/j.ajhg.2025.06.003. Epub 2025 Jun 27. PMID: 40580956; PMCID: PMC12362525.   Joon-Ho Yu, Katherine E. MacDuffie, Olivia Sommerland, Tesla Theoryn, Priyanka Murali, Kailyn Anderson, Megan Sikes, Lukas Kruidenier, Heidi I.S. Gildersleeve, Abbey Scott, Kati J. Buckingham, Kirsty McWalter, Paul Kruszka, Alexandra C. Keefe, Jessica X. Chong, David L. Veenstra, Katrina M. Dipple, Tara Wenger, Dan Doherty, Michael J. Bamshad, Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis, Human Genetics and Genomics Advances, Volume 6, Issue 4, 2025, 100464, ISSN 2666-2477,https://doi.org/10.1016/j.xhgg.2025.100464.   Yu JH, MacDuffie KE, Sommerland O, Theoryn T, Murali P, Anderson K, Sikes M, Kruidenier L, Gildersleeve HIS, Scott A, Buckingham KJ, McWalter K, Kruszka P, Keefe AC, Chong JX, Veenstra DL, Dipple KM, Wenger T, Doherty D, Bamshad MJ. Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis. HGG Adv. 2025 Oct 9;6(4):100464. doi: 10.1016/j.xhgg.2025.100464. Epub 2025 Jun 3. PMID: 40468597; PMCID: PMC12357158. Relevant Resources: “World’s First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia” via CHOP “Is NIH cutting corners as it rushes to fill leadership positions?” via Science Insider   “The U.S. Is Funding Fewer Grants in Every Area of Science Medicine” via The New York Times American Society of Human Genetics Past President List Six Things to Know About ASHG’s Advocacy Work in 2025 Six Ways to be an ASHG Advocate “On the Hill and Working for You: Our Advocacy in Action” ASHG Webinar Mass General Brigham launches genetic test to predict risk across eight cardiovascular conditions via Broad Institute  Human Pangenome Project  “Stanford scientist (Dr. Euan Ashley) who broke genome sequencing record on what faster diagnoses mean for patients” (2023) via STAT News Broad Clinical Labs sets new GUINNESS WORLD RECORDS™ title for fastest DNA sequencing technique “All babies in England to get DNA test to assess risk of diseases within 10 years” via The Guardian  “Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via Forbes about the Sunshine Genetics Act  Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening (BEACONS) First U.S. National Genomic Newborn Screening Initiative Launched with $14.4 Million NIH Award Being an accidental pioneer in precision medicine | Matt Might | TEDxBirmingham   Relevant DNA Today Podcast Episode: #110 Gattaca, 22 Years Later #117 Dr. Janina Jeff on African Genomes #150 Euan Ashley and Stephen Quake on The Genome Odyssey #182 Eric Green on the Complete Human Genome Project #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium #214 Genetics Wrapped 2022 (with Dr. Eric Green) #216 African American Ancestry with Nicka Smith #221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels #260 PhenoTips: Population Genomics in Clinical Practice (with Dr. Eric Green) #266 Genetics Wrapped 2023 (with Drs. Eric Green and Brendan Lee) #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #318 Genetics Wrapped 2024: Top Advances in Genomic Medicine (with Drs. Bruce Gelb and Eric Green) #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) #345 How To Talk About DNA Without Losing People: Strategies Part 1 #350 How To Talk About DNA Without Losing People: Strategies Part 2 #358 AGBT Precision Health 2025 Meeting Recaps and Reflections (with Dr. Eric Green) #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding    Connect with us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our library of over 365 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What would you do if you had millions of dollars in funding to transform the future of genetic counseling? Few in our field have successfully taken on that challenge, and Dr. Kathleen Valverde is one of them; she has secured two groundbreaking grants totaling almost $20 MILLION. We sat down with her in-person for this episode to hear her advice on acquiring grant funding and the profound impact it can have on advancing our profession.    Episode Topics Discussed: Kathy's Motivation and Background Kathy's role as a program director and her journey in genetic counseling. The importance of scholarships and funding for diverse backgrounds. Grant Funding and Impact Details of the grants from the Warren Alpert Foundation. The impact of these grants on genetic counseling education and diversity. Challenges in Genetic Counseling Discussion on the barriers to funding and access in genetic counseling. Kathy's personal experiences and commitment to overcoming these challenges. Mentorship and Networking The role of mentorship and networking in Kathy's success. Advice on starting with small grants and building a track record. Programs Supported by Grants Overview of the Alliance for Genetic Counseling and Career Ladder Education Program. Benefits provided to students, including tuition, health insurance, and stipends. Educational Opportunities and Continuing Education The importance of continuing education for genetic counselors. Details of the Advanced Research Training Certificate Program. Long-term Effects and Measuring Success Metrics and outcomes of the grant programs. Success stories and the impact on students' careers. Advice for Aspiring Grant Recipients  Kathy's advice on grant writing and overcoming imposter syndrome. The importance of perseverance and community support. Future of Genetic Counseling Kathy's vision for the future of genetic counseling. The need for continued education and support in the field.   The Guest: Kathleen Valverde, PhD, MS, LCGC is an Assistant Professor at the University of Pennsylvania’s Perelman School of Medicine and one of the most influential leaders in genetic counseling education. She is the principal investigator of two major Warren Alpert Foundation grants — the Alliance for Genetic Counseling (AID-GC) and the Career Ladder Education Program for Genetic Counselors (CLEP-GC) — totaling nearly $20 million to expand diversity, access, and research training in the field.  Across her 40-year career, she has trained nearly 400 genetic counselors, served in key leadership roles for national organizations including ACGC, and helped establish genetic counseling licensure in Pennsylvania. A BRCA-positive family member herself, Dr. Valverde brings both professional expertise and lived experience to her mission of strengthening the genetic counseling workforce and advancing patient care.   Relevant Resources:  Grant Superhero: Kathleen Valverde, PhD, LCGC Dr. Kathleen Valverde’s PubMed Articles Warren Alpert Foundation The Warren Alpert Foundation Career Ladder Education Program - The Advanced Research Training Certificate Program for Genetic Counselors (or ART-GC) Alliance for Genetic Counseling Fellowship  Audrey Heimler Special Projects Award (AHSPA) Jane Engelberg Memorial Fellowship (JEMF) The Basser Center for BRCA PhenoTips Speaker Series Live Podcast Episode: Proving Profitability in Genomics with Dr. Eric Green, Brian Reys, Marianne Olson, and Dr. Colleen Campbell    Relevant DNA Today Podcast Episodes: #25 Interview with Cancer Hereditary Experts (with Ellen Matloff)  #91 Ellen Matloff on Direct-To-Consumer Genetic Testing #136 Linda Robinson on the History of Genetic Counseling #234 Genetic Counseling History: 1st NSGC Conference  #235 Genetic Counseling History: ABGC Formation #244 Genetic Counseling History: The 70s #319 New CPT Code 96041 Explained: 2025 Billing for Genetic Counselors #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice (with Ellen Matloff)   Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our backlog of over 365 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This is our fifth installment in our Mock Genetic Counseling Session Series! In this episode, prenatal genetic counselor Brittany Gancarz and student Victoria Russo perform a mock genetic counseling session. The session indication is an abnormal ultrasound finding of an increased nuchal translucency.  This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.  We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.   The Actors: Victoria Russo (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Russo is a graduate of Northeastern University with a B.S. in Cell/Cellular and Molecular Biology. The premise of this mock case was Russo’s work as part of her internship with DNA Today.     Brittany Gancarz, MS, LCGC (she/her) practices as the lead prenatal genetic counselor at UConn Health, where she sees patients for a wide variety of pregnancy and preconception indications. She enjoys working as part of the healthcare team with many other skilled professionals in the Maternal Fetal Medicine department. Gancarz’s genetic counseling interests include prenatal diagnosis, cell-free DNA testing, carrier screening, ultrasound anomalies, preimplantation genetic diagnosis, and perinatal palliative care. Gancarz is on the Board of Directors for the Connecticut Genetic Counselor Association. She was awarded Bay Path University's Genetic Counseling Program’s Outstanding Clinical Supervisor of the Year. Brittany graduated from Colby College in 2010 with a Bachelor of Arts, majoring in Biology and minoring Creative Writing, and completed her master’s degree in Human Genetics at the Joan H. Marks Program in Human Genetics at Sarah Lawrence College.    Mock Cardiac Genetic Counseling Session Outline Session Indication:  The patient is Kylie who is a 29 year old female who is experiencing her first pregnancy (G1P0). She is currently 13 weeks gestation and on her last ultrasound had an increased nuchal translucency measurement (3.7 mm), so her OB/GYN referred her to a genetic counselor.  Contracting  Brittany introduces herself as the genetic counselor and confirms the referral reason. The patient, Kylie, shares her understanding of the ultrasound findings and her lack of knowledge about genetic counseling. Explanation of Ultrasound Findings Discussion of the nuchal translucency (NT) measurement and its implications. Explanation of the potential genetic conditions associated with increased NT. Screening and Testing Options Overview of non-invasive prenatal testing (NIPT) and its capabilities. Discussion of diagnostic testing options: CVS and amniocentesis, including their procedures, risks, and timing. Family History and Genetic Concerns Exploration of family history for genetic conditions or concerns. Discussion of Factor V Leiden and its implications. Decision-Making and Next Steps Discussion of the patient's feelings and decision-making process regarding testing. Planning for screening tests and follow-up consultations. Conclusion Recap of the session and reassurance provided to the patient. Information on how to reach out with further questions and the plan for future appointments.   Relevant Reproductive Genetic DNA Today Episodes: Episode #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #225 Fetal Antigen Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #270 Embryo and Miscarriage Genetic Testing with Kelly Loggenberg Episode #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions   Previous installments of our Mock Genetic Counseling Session series: Episode #311: Cancer Session for Breast and Prostate Cancer Family History Episode #317: Prenatal Session for Advanced Maternal Age Episode #331: Pediatric Session for Autism Episode #351: Cardio Session for Sudden Death of A Family Member    Disclaimer: Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory.    Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Science and religion don’t have to be in conflict. In this special crossover, we premiere the pilot episode of “Gods and Genes”, a new brand podcast in the Gene Pool Media network hosted by Amber Sher, MS, CGC. Our host Kira Dineen interviews Amber about the conversations that emerge when genomics meets spirituality, from how clinicians respectfully engage with patients’ beliefs to how our own worldviews shape care at the bedside. Amber shares her personal background growing up in a religiously mixed home (Christian/atheist), her journey through deconstruction and back to a post-deconstruction Christian identity, and why that lived experience drew her to study religion and spirituality in genetic counseling for her graduate capstone at Keck Graduate Institute (KGI). With training in genetic counseling and a background shaped by a religiously mixed upbringing, Amber brings a unique perspective on how to navigate questions of faith in medical settings. Be sure to subscribe to Gods and Genes on your podcast app, here on Spotify and here on Apple Podcasts, so you don’t miss future episodes exploring belief, meaning, and medicine. Episode Topics Discussed: Why this show, why now: The vision for Gods and Genes and the gap it fills in clinical education and patient care. Science + spirituality as complements: Curiosity, mystery, and how questions in science and faith can productively coexist. Amber’s path: Growing up with Christian and atheist parents, deconstruction, and how that shapes her clinical stance today. Inside the capstone study: What genetic counselors report hearing from patients about faith/spirituality, and how prepared they feel. Key finding: Providers’ perceived helpfulness in faith-related conversations did not differ by their own religiosity, spirituality, affiliation, or years of experience, suggesting this is a trainable skill. Practical language clinicians can use: Validating statements (“It sounds like your faith is important in this decision…”) Reflective summaries to check understanding Thoughtful reframing that integrates beliefs with medical options (and knowing when to refer to chaplaincy) When beliefs and recommendations diverge: Staying non-directive, exploring assumptions, and correcting myths (e.g., privacy/HIPAA concerns). Partners in care: Why clergy (e.g., rabbis in Orthodox communities) are often medical advocates, not adversaries, and how to collaborate. Common misconceptions, both ways: Among clinicians about “what clergy do” and whether to invite them in Among faith communities about what genetic counselors do beyond prenatal care Invitations to the community: Amber seeks conversations with religious scholars, non-religion/unbelief researchers, chaplains, clinicians, and patients willing to share how belief (or non-belief) shaped their care.   Correction: Around 12 minutes and 30 seconds into the episode (varies depending if you are consuming the audio or video version), Amber shares that in every session religion/spirituality comes up, she meant to say every rotation she went through, not with every patient.    Key Takeaways: Patients raise spiritual or religious concerns more often than many trainees expect; be ready, not reactive. You don’t need to be religious to be helpful; skills can be learned (validation, reflection, collaboration). Not every visit needs a spiritual history, follow the patient’s lead. Chaplains, rabbis, clergy etc. can be allies who understand medical contexts and patient values. Thoughtful reframing (when appropriate) can align faith commitments with evidence-based options without being directive.   Relevant Resources:  Religion On the Mind podcast hosted by Dan Koch (Spotify, Apple, and Substack)  "Utterly Humbled by Mystery" by Father Richard Rohr Rob Bell on Spirituality and Mystery Richeimer N, Wilson K, Petrasek A, Weiner J. Emunas Chachamim (faith in the sages): A prenatal genetic counseling needs assessment of Orthodox Jewish clergy in Los Angeles. J Genet Couns. 2024 Oct;33(5):1045-1058. doi: 10.1002/jgc4.1816. Epub 2023 Oct 25. PMID: 37877233. Thompson AB, Cragun D, Sumerau JE, Cragun RT, De Gifis V, Trepanier A. "Be Prepared if I Bring It Up:" Patients' Perceptions of the Utility of Religious and Spiritual Discussion During Genetic Counseling. J Genet Couns. 2016 Oct;25(5):945-56. doi: 10.1007/s10897-015-9922-9. Epub 2016 Jan 13. PMID: 26758255.    Relevant DNA Today Podcast Episode: #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19   Gene Pool Media: The Science Podcast Network Gods and Genes is the newest show on science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  Parálisis Cerebral Respuestas If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at [email protected]. We’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today.    Connect With Us: Would you like to be a guest on Gods and Genes? Email your pitch to Amber at [email protected] or [email protected].  Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 365 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. The Graphic Designer of the new Gods and Genes logo is Safiah Peeran.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We’re back from the 44th National Society of Genetic Counselors (NSGC) Annual Conference, which took place this year in scenic Seattle, Washington! Between the waterfront views, lively poster sessions, and packed educational symposia, the energy was electric as genetic counselors and industry partners came together to celebrate the progress and future of our field. This marks the 7th year in a row that DNA Today has produced an NSGC recap episode, and it continues to be our favorite conference of the year (shhh don’t tell the others).  Our host Kira Dineen, MS, LCGC, CG(ASCP)CM, spent the week attending sessions, reconnecting with past guests and sponsors, and meeting so many listeners in person (thank you to everyone who stopped to say hello!). In this episode we conduct a few in-person lightning interviews featuring attendees of the conference highlighting their favorite sessions and what they learned. Attendees featured include Grace Drew, Celine Belekdanian, Sofia Sheikh, Cristina Liriano Cepin, and Kim Ta.  Kira Dineen was one of six panelists for the preconference workshop, “Think Big, Start Small: A Practical Guide to Entrepreneurship”. After it wrapped she caught up with Kate Wilson to reflect on entrepreneurship as a career path for genetic counselors. Kate Wilson was the session coordinator and moderator. Kate’s two podcasts All Access DNA and DNA Dialogues are housed under our science podcast network, Gene Pool Media.  Relevant Resources:  NSGC Professional Status Survey (PSS) DNA Dialogues, Journal of Genetic Counseling’s Podcast All Access DNA Gene Pool Media: The Science Podcast Network   Relevant DNA Today Podcast Episode: #232 Entrepreneurship in Genetics with Matt Tschirgi #302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care #307 NSGC 2024 Recap   Curious about other NSGC conferences? We have recapped the last seven years of conferences including 2019, 2020, 2021, 2022, 2023, and 2024.    Don't forget to mark your calendars! The 45th NSGC Annual Conference is happening next year in Baltimore, MD from November 10-14, 2025. We are already excited to eat lots of crab cakes with fellow genetic counselors.    What’s next on our conference schedule? We will be in New Hampshire for NERGG December 4th and 5th. Our host Kira Dineen will be presenting about how to utilize social and digital media in advocacy efforts. Check out the agenda here and register here, and if you are a student you get 50% off! Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

The 11th annual Raw Science Film Festival took place this past weekend in New York City. We were lucky enough to be invited and had the honor of interviewing Dr. Larry Corey in-person. He is a renowned expert in virology, immunology and vaccine development who was featured throughout the film “Ending HIV: The Journey to a Vaccine”. The film won the Jury Award for Best Professional Documentary Feature at the festival.    While at the festival our host/producer Kira Dineen accepted the Backstage Best Actor Award (Female) on Devin Sidell’s behalf. You may remember her from Episode #360 where we talked with her about her film “Love, Danielle” which is the first scripted feature film to explore the very real struggles of living with a BRCA gene mutation.    The Guest:    Dr. Larry Corey is the former president and director of Fred Hutch Cancer Center. His research focuses on herpes viruses, HIV, the novel coronavirus and other viral infections, including those associated with cancer. For 25 years Dr. Corey has led the HIV Vaccine Trials Network (HVTN), the largest international research network focused on developing a safe and effective vaccine against HIV. In 2020 he was selected by Dr. Anthony Fauci to lead the CoVID Prevention Network to run the clinical trials for COVID-19 under Operation Warpspeed. The scientific work on HIV made it possible to achieve a COVID vaccine in record time. In turn, COVID vaccines gave us mRNA technologies and the ability to speed up vaccine development and save more lives.  “Ending HIV: The Journey to a Vaccine” Documentary:    This powerful and timely documentary masterfully chronicles one of the most significant scientific pursuits of our era, spanning decades of research and resilience.   Since the early 1980s, scientists, researchers, community organizers, faith leaders, and countless organizations have poured their lives into understanding and battling HIV — the most complicated virus medicine has ever faced.   When the HIV Vaccine Trials Network (HVTN) was formed in the 1990s, an unprecedented global collaboration took shape. But until now, the tireless work across countries, races, genders, and disciplines had never been fully narrated on screen.   On This Episode We Discuss: In this in-person conversation, Dr. Larry Corey discusses his extensive experience in vaccine development, particularly focusing on the challenges of creating an HIV vaccine compared to COVID-19. He highlights the genetic diversity of HIV, the evolution of vaccine strategies, and the importance of community engagement in research. Dr. Corey also emphasizes the impact of HIV research on broader scientific fields and addresses the ongoing issue of vaccine skepticism in public health.   HIV's genetic diversity complicates vaccine development significantly. Understanding immune evasion strategies is crucial for creating effective vaccines. The evolution of vaccine strategies has shifted focus from T cells to B cells. Infrastructure built for HIV research facilitated rapid COVID-19 vaccine development. Community engagement is essential for successful vaccine trials and public trust. HIV research has led to advancements in other areas of medicine and science. Continued funding for HIV research is critical for future breakthroughs. Vaccine skepticism poses a significant challenge to public health initiatives. Engaging with communities can help combat misinformation about vaccines. An HIV vaccine may be achievable within the next few years. Relevant Resources:  Watch the full documentary “Ending HIV: Journey to a Vaccine” on their website here Learn about the HIV Vaccine Trial Network here Learn more about the science behind HIV research here See the road of the HIV milestones here Find out if there's a study clinic near you here, their studies are conducted at over 40 research sites across the United States Find out more about volunteering for a study here Access information about The Fred Hutch Cancer Center here Check out the Raw Science Film Festival here Brand new paper published on October 25th (the day we recorded) that Dr. Corey referenced. Youyi Fong, Yunda Huang, Ying Huang, Wayne Woo, Alice McGarry, Germán Áñez, Lisa M Dunkle, Iksung Cho, Christopher R Houchens, Karen Martins, Lakshmi Jayashankar, Flora Castellino, Christos J Petropoulos, Andrew Leith, Deanne Haugaard, William Webb, Yiwen Lu, Chenchen Yu, Lindsay N Carpp, April K Randhawa, Michele P Andrasik, James G Kublin, Julia Hutter, Maryam Keshtkar-Jahromi, Tatiana H Beresnev, Carina A Rodriguez, Milagritos Tapia, Christine B Turley, Carmen D Zorrilla, Stuart H Cohen, Susan E Kline, Elizabeth Barranco, Lawrence Corey, Kathleen M Neuzil, Dean Follmann, Julie A Ake, Cynthia L Gay, Karen L Kotloff, Thomas Jones, Richard A Koup, Ruben O Donis, Peter B Gilbert, on behalf of the Immune Assays Team, the Coronavirus Vaccine Prevention Network (CoVPN)/2019nCoV-301 Principal Investigators and Study Team, and the United States Government (USG)/CoVPN Biostatistics Team, Analysis of Antibody Markers as Immune Correlates of Risk of Severe COVID-19 in the PREVENT-19 Efficacy Trial of the NVX-CoV2373 Recombinant Protein Vaccine, Clinical Infectious Diseases, 2025;, ciaf558, https://doi.org/10.1093/cid/ciaf558    Relevant DNA Today Podcast Episode: #67 Daniel DeFabio on Disorder: The Rare Disease Film Festival #110 Gattaca, 22 Years Later #151: Richard Michelmore and Brad Pollock on COVID-19 Variants #154 Kenneth Kovan & David Berd on Haptenized Vaccines #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #328 Breakthrough Biotech: CAR-Ts for Solid Tumors & Engineered Bacteria for Rare Diseases #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle” #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding  We will see many of you next week in Seattle for the National Society of Genetic Counselors (NSGC) annual conference. If you are attending and want to be featured on the show, meet us at the end of “Passport to Prizes” where we will record quick sound bites on what you learned at the conference to be included in our NSGC recap episode.  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 360 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

On DNA Today, we spend a lot of time talking about genetic testing in the U.S., but what does this look like in other parts of the world? Since it’s Breast Cancer Awareness Month, we’re shifting our focus to Italy to explore how breast cancer genetic testing is being implemented there. We’re joined by two expert guests: Dr. Beatrice Salvatori, is a Scientist and Project Manager at Negedia, where she leads oncology-related projects and develops new research initiatives. With a PhD in Genetics and Molecular Biology, her career has spanned bioinformatics, breast cancer research, and now applying cutting-edge sequencing to expand access to hereditary cancer testing in Italy. Dr. Javier Batista Perez is a DCS Specialist at MGI Tech. For those that don’t know, DCS stands for "DNA Sequencing", "Cell Omics", and "Spatial Omics". With expertise across biophysics, bioinformatics, and therapeutic design, Dr. Perez brings deep knowledge of how MGI’s sequencing technologies are being applied across Europe and how they’re shaping the future of precision medicine. Topics Covered in This Episode How lifestyle, environment, and genetics contribute to cancer risk Why breast cancer genetic testing is a major public health priority in Italy The five-gene panel (BRCA1, BRCA2, CHEK2, PALB2, ATM) designed for hereditary breast and ovarian cancer, and why these genes were chosen How mutations (pathogenic variants) in these genes contribute to cancer risk Why Negedia partnered with MGI Tech and what makes the technology innovative Sequencing exons and select non-coding regions for more complete genetic risk analysis How variant databases have expanded, improving interpretation and curation The importance of cost-effectiveness in scaling genetic testing in national healthcare systems Unique barriers Italian patients face compared to the U.S. in accessing genetic testing The role of general practitioners vs. specialists in referrals for genetic testing in Italy Looking ahead: Will Italy move toward population-wide BRCA screening? Should more genes be added to future panels (TP53, RAD51C/D)? How spatial transcriptomics and multi-omics may reshape hereditary cancer care Biggest opportunities and challenges for scaling genetic testing globally Resources:  Negedia MGI’s Sequencing Platforms    Relevant DNA Today Podcast Episodes: #25 Cancer Hereditary Experts Amy Byer-Shainman, Ellen Matloff & Georgia Hurst  #165 Sequencing for Cancer Risk with Sandra Balladares #159 Black Cancer Genes on Breast Cancer with Dena Goldberg (Dena DNA) & Erika Stallings #211 The Genome Defense’s Author Jorge Contreras On The Supreme Court Case for Gene Patents #309 Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship” #311 Mock Hereditary Breast and Ovarian Cancer Genetic Counseling Session #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”   Fact Check: Kira was correct when she quoted 1 in 8 people assigned female at birth will develop breast cancer in their life, according to The National Breast Cancer Foundation Inc.    Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We just wrapped an incredible week at the American Society of Human Genetics (ASHG) 2025 Annual Meeting in the historic Boston, Massachusetts! This year’s gathering brought together thousands of geneticists, clinicians, and innovators to share discoveries that are reshaping the field.  In this episode of DNA Today, host Kira Dineen takes you inside the conference experience, from lively poster sessions and thought-provoking sessions to spontaneous hallway conversations that sparked new ideas. You’ll hear from researchers pushing the boundaries of genomic medicine, genetic counselors reflecting on the future of the profession, and industry leaders unveiling the latest breakthroughs in sequencing and data interpretation. The energy in Boston was electric, collaboration and networking were the keywords of the week, and optimism about the future of genetics filled every session. Whether you attended in person or are catching up from afar, this recap captures the highlights, trends, and takeaways that defined ASHG 2025.   Sessions Recapped & Conference Aspects Explored: Ivy Bethea’s presentation, “Comparing the Diagnostic Capability of Large Language Models and Clinical Geneticists,” was discussed. She was the first genetic counseling trainee to deliver a plenary talk at the conference. Ivy Bethea is a recent graduate of the The Columbia University Program in Genetic Counseling.    We also teamed up with Wiley Advanced Portfolio to co-host a breakfast where our host Kira Dineen moderated a panel exploring the publishing landscape in genetics. Highlights from this session were recapped and reflected upon.    The expert that holds the record for most guest appearances on DNA Today is Dr. Eric Green, who received the prestigious and well deserved ASHG 2025 Leadership Award. We reflect on his acceptance speech filled with wisdom for genetic experts to be leaders. We recognized the absence of many of his colleagues at the NIH as they were not permitted to travel to the conference during the US government shutdown and the impact it had at the conference overall. We also discussed how funding has drastically changed from the NIH and how that is affecting genetic research in the US.    Guests: Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified. Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics. Alex Bates is a science communications expert with 20 years of experience leading national, metric-driven campaigns across government, nonprofit, and startup sectors. She is co-founder of The Science Underground, LLC, which crafts culturally competent, science-backed communications for early-stage startups and major consortia. Most recently, she served as Communications Director at the National Human Genome Research Institute (NHGRI), where she led award-winning outreach on topics like the history of eugenics and helped establish NHGRI’s global reputation for innovative public engagement, work that ended with the April 1 HHS layoffs. Alex previously led communications for the National Science Foundation’s Engineering Directorate and BRAIN Initiative, earning Director’s Awards for both Excellence Pioneer and Diversity and Inclusion, and managed BrainFacts.org, a $1.2M science education initiative. She holds master’s degrees in journalism and astronomy, and a bachelor’s degree in physics and English.   Science Communication Resources: The Science Underground, for all your science communication consultation needs “Public Knowledge of and Attitudes Toward Genetics and Genetic Testing” in Genetic Testing and Molecular Biomarkers  Telomere-to-Telomere (T2T) NHGRI symposium confronts difficult pasts of eugenics and scientific racism NHGRI’s Human Genome Fact Sheet  NIH’s Tribal Health Research Office  Publishing Resources:  Wiley Advanced Portfolio  Wiley’s Journal Finder Genetics and Genomics: Advanced Science Collection  Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections Wiley's AI guidelines for Authors What Makes a Successful Submission Wiley Blog Post Eligibility for access to Research4Life  Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering   Relevant DNA Today Podcast Episode: #182 Eric Green on the Complete Human Genome Project  #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere (T2T) Consortium #214 Genetics Wrapped 2022 #260 PhenoTips: Population Genomics in Clinical Practice #266 Genetics Wrapped 2023 #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #314 ASHG 2024 Recap #337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors  #318 Genetics Wrapped 2024 #345 How To Talk About DNA Without Losing People: Strategies Part 1 #350 How To Talk About DNA Without Losing People: Strategies Part 2 #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice   Stay tuned for a future episode where Drs. Yuming Hu and Elizabeth Bhoj return to the show to share more insight into the science publishing world.    Also we hope to see you in Seattle for the next national genetics conference, National Society of Genetic Counselors which kicks off on November 6th with pre-conference workshops including one with our host Kira Dineen, “Think Big, Start Small: A Practical Guide to Entrepreneurship”.    Brush up on your French before next year’s ASHG conference, we are heading to Montréal, Canada in October 2026! Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 360 episodes? That’s right, we have enough episode for you to listen to one a day for a year, and still have more to go! Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

What if we could detect structural changes in DNA that traditional tests often miss? On this episode of DNA Today, we’re diving into optical genome mapping (OGM), a cutting-edge technology transforming how we detect genetic variants and structural abnormalities. We’ll explore what OGM is, how it compares to existing genetic tests, and what it means for patients and families worldwide.   Our guest is Dr. Nikhil Sahajpal, Assistant Director in the Cytogenetics and Molecular Laboratories at the Greenwood Genetic Center (GGC) in Greenwood, SC. He led the validation of OGM at GGC.    He earned his PhD in Pharmaceutical Sciences in India before completing postdoctoral training at Augusta University in Augusta, Georgia, where he focused on advancing molecular and cytogenetic methodologies for prenatal, pediatric, and oncology applications. During his time there, he also played a key role in establishing FDA/EUA-approved diagnostic testing and research for COVID-19.   Dr. Sahajpal began his Laboratory Genetics & Genomics fellowship at GGC in the summer of 2022. During his fellowship, he trained extensively in the implementation and interpretation of molecular and cytogenetic diagnostic tests and led the development and validation of a novel clinical test, optical genome mapping.   Now as an Assistant Director, Dr. Sahajpal continues his innovative work while advancing GGC’s mission of providing state-of-the-art diagnostic tools along with compassionate care for patients and families affected by genetic disorders.   In this conversation, we explore:   OGM basics – what it is, how it works, and why it matters Why Greenwood Genetic Center adopted OGM and Dr. Sahajpal’s role in leading the project How OGM compares to karyotyping, microarray, FISH, and NGS The resolution advantage of OGM and its impact on clinical care Early success stories where OGM provided answers missed by other methods Insights from GGC’s study on neural tube defects (NTDs), including the discovery of candidate genes (RMND5A, HNRNPC, FOXD4, and RBBP4) How OGM could help reduce the diagnostic odyssey for rare disease patients The future of OGM – will it replace traditional cytogenetic techniques or work alongside them?   Relevant Resources:    Greenwood Genetic Center’s Optical Genome Mapping – Complete and Targeted  Study Using OGM in Neural Tube Defects Reveals Previously Unreported Variants and Candidate Genes with Potential Links to the Devastating Birth Defect Sahajpal Completes Laboratory Fellowship at GGC and Joins Faculty Sahajpal NS, Mondal AK, Singh H, Vashisht A, Ananth S, Saul D, Hastie AR, Hilton B, DuPont BR, Savage NM, Kota V, Chaubey A, Cortes JE, Kolhe R. Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers. Cancers (Basel). 2023 Jun 16;15(12):3214. doi: 10.3390/cancers15123214. PMID: 37370824; PMCID: PMC10296552.   Relevant DNA Today Podcast Episode: #145 Greenwood Genetic Center on Epigenetics #279 Reflecting on 50 Years of Greenwood Genetic Center #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey (discusses dual diagnoses)  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

The third Connecticut Genetic Counselors' Association (CTGCA) Annual Educational Conference was held last Friday (September 25th, 2025) at the gorgeous Jackson Laboratory for Genomic Medicine in Farmington, Connecticut.    Our host Kira Dineen resides in Connecticut and has been lucky enough to present every year. This time moderating a panel about the economics of genetic counseling, which is now shared as this podcast episode.    This panel conversation explores the economics of genetic counseling, focusing on the current financial climate, the role of genetic counselors in healthcare, and the importance of adaptability and networking for career development. The discussion explores challenges faced by students and professionals in the field, the need for expanded roles, and the significance of engaging with industry and policy to secure the future of genetic counseling.   The Connecticut Genetic Counselors' Association (CTGCA) is a not-for-profit statewide genetic counselors' association with a mission to foster, support, and strengthen the community of genetic professionals, in the common pursuit of improving clinical genetics and genomics care, within the state of CT. If you are a genetic counselor who lives in Connecticut become a member for free here.    The Jackson Laboratory for Genomic Medicine focuses on research in human genomics, complementing their long history of mammalian genetics expertise. JAX Genomic Medicine, which opened in 2014 next to the UConn Health campus, facilitates clinical collaboration with Connecticut’s many universities and hospitals. Kira Dineen also attended the grand opening back in 2014 and recapped it on all the way back on Episode #6 of DNA Today.    The Panel:    Ellen Matloff, MS, CGC is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine. Ellen has authored more than 50 scientific publications in the field; is an established educator, lecturer, and media spokesperson; and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court in 2013. This decision led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. As genetic testing became more common and also more complex, she served as the senior author on several publications documenting national errors in the misinterpretation of genetic test results. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively.   Maria Gyure, MS, CGC currently serves as the Program Director for the University of Connecticut’s Genetic Counseling Professional Science Master’s Degree Program. Her passion for education in clinical genetics led her to design and lead two online graduate certificate programs for UConn. Her expertise in online learning has been recognized nationally and she continues to champion for the benefits of quality and accessible learning. An alumna, she attended UConn on a 4-year Academic Leadership Scholarship where earned a Bachelor of Science degree in Diagnostic Genetic Sciences and a minor in Molecular and Cell Biology. Maria subsequently matriculated into the Genetic Counseling Program at Virginia Commonwealth University in Richmond, VA, where she earned a Master’s of Science in Genetic Counseling and completed the VA Leadership Education in Neurodevelopmental Disabilities (Va-LEND) program. Maria served as a clinical genetic counselor and later combined genetic counseling with research and served as the research coordinator for multiple federally funded research grants on both family communication about cancer and interventions for young children at risk for emotional and behavioral disorders. Maria has several publications in her specialty in addition to invited presentations and service on graduate advisory committees. She maintains her clinical skills by counseling pediatric genetics patients at UConn Health and is a true voice for underserved populations.   Samantha Baxter, MS, CGC is the associate director, genetic and genomic data sharing, and a genetic counselor in the Program in Medical and Population Genetics Translational Genomics Group at the Broad Institute of MIT and Harvard. She is the operations manager and council member for gnomAD, she co-chairs the policy working group for the GREGoR Consortium, and she leads the TGG’s variant curation team. Baxter began her tenure at the Broad Institute in 2016 as a clinical project manager and genetic counselor. In 2018, she became a senior clinical genomics specialist and founded the Genetic Counselor Affinity Group. She also took an appointment as an adjunct associate professor at the MGH Institute of Health Professions in 2019. In 2020 she started her current position. She is an active member of the National Society of Genetic Counselors and has served on the board of directors. Prior to joining the Broad Institute, Baxter was director of VariantWire, a real-time genomic data-sharing network based on the GeneInsight platform that grew out of her previous work as an application specialist for the Partners Healthcare Business Development Team. In 2012 she was awarded the National Society of Genetic Counselors New Leader Award. Baxter obtained her M.S. in genetic counseling from the Boston University School of Medicine and holds a B.S. in behavioral neuroscience from Lehigh University. She is certified as a genetic counselor through the American Board of Genetic Counseling and is a licensed genetic counselor in the state of Massachusetts.   The Moderator   Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her), has over a decade of podcast experience fueled by a passion for science communication. She has hosted and/or produced 10+ podcasts, many of which are in her science podcast network: Gene Pool Media. In 2012, she launched her flagship show, DNA Today, which dives into the world of genetics through interviews about genetic technology, disorders, and ethics. “DNA Today” has won the Best 2020-2022 Science and Medicine People’s Choice Podcast Award. The show has surpassed 350 episodes supported by over 80 sponsors. Kira received her Bachelor’s of Science in Diagnostic Genetics from the University of Connecticut and earned her certification as a Cytogenetic Technologist. She received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York. She is a licensed certified genetic counselor at a high risk prenatal private practice.  She was accepted into The Podcast Academy and previously served on NSGC’s Digital Ambassador program. Kira serves as an adjunct faculty member at Bay Path University teaching Ethics and Reproductive Genetics. She also serves on the Dean’s Advisory Committee at the University of Connecticut’s College of Agriculture, Health and Natural Resources.    Takeaways The financial climate in genomics is challenging for genetic counselors. Genetic counselors need to advocate for their value in healthcare. Understanding the economics of genetic counseling is essential for strategic career planning. Students should be aware of the rising costs of education and its impact on their careers. Adaptability is a crucial skill for success in genetic counseling. Networking can open doors to new opportunities in the field. There is a growing need for genetic counselors in various industries beyond healthcare. Engaging with policy and industry can help secure the future of genetic counseling. Future roles for genetic counselors may include positions in venture capital and private equity. It's important to follow personal passions and interests in career development. Relevant DNA Today Podcast Episodes #211 Jorge Contreras on The Genome Defense (Gene Patent Supreme Court Case) #91 Ellen Matloff on Direct-To-Consumer Genetic Testing #69 Jackson Lab's Forum on Healthcare Innovation #42 Women In Bioscience: Let There Be No Limit #25 Interview with Cancer Hereditary Experts #6 Jackson Laboratories for Genomic Medicine Opening   Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].   

What would you do if you learned your DNA carried a mutation that gave you up to an 85% lifetime risk of breast cancer? That’s the impossible decision at the heart of Love, Danielle, the first scripted feature film to explore the very real struggles of living with a BRCA gene mutation.    In this episode, we are joined by Devin Sidell, the film’s co-writer, producer, and lead actress, who brings her own BRCA1 journey to the screen, and Amy Byer Shainman, the BRCA Responder, a patient advocate and producer of the film. Together, we explore the science of BRCA mutations, the personal impact of hereditary cancer, and how storytelling can transform the way we understand genetics and health.    Breast cancer awareness month starts next week which is perfect timing as for Love, Danielle will be released in North America on October 3, 2025! You can watch it on Apple TV, Amazon Prime, and many more digital platforms.   Devin Sidell    A Los Angeles native, Devin Sidell graduated cum laude from Princeton University and then moved back to L.A. to pursue a career in film and television, appearing as Teen Lois on "Malcolm in the Middle" and recurring as Abigail Stevens on "The O.C." She won an L.A. Weekly Award for her performance in "Land of the Tigers" at Sacred Fools Theatre and was nominated for both LADCC and Ovation Awards for the musical "The Behavior of Broadus," co-produced by Center Theatre Group. Devin has appeared in shows at the Kirk Douglas Theatre as well as on The Broad Stage opposite Josh Gad and Bryce Dallas Howard.   In addition to appearances on "Ray Donovan" opposite Liev Schreiber, the viral singing criminals cold open on "Brooklyn Nine-Nine" (yes, that cold open!), "NCIS," Lena Waithe's "Twenties," and B.J. Novak's "The Premise," Devin appears in Rob Zombie's horror film "31" (Sundance Film Festival) and recurs as a sketch performer on "Jimmy Kimmel Live!" A carrier of the BRCA1 gene mutation with a family history of ovarian and breast cancers, Devin decided in 2017 to undergo both a preventative double mastectomy and a preventative hysterectomy/oophorectomy, earning her the label of "previvor." She is in post production on the dark comedy feature film "Love, Danielle" about her experience. She is a proud member of the Television Academy.   Fun sidenote, before we hit record Devin Sidell was sharing what it was like to film the hilarious and viral “I Want It That Way” scene in Fox’s TV show Brooklyn Nine-Nine. It has gone viral with over 43 million views on YouTube alone. Devin plays the female character identifying the criminal.    Amy Byer-Shainman    Amy Byer Shainman, also known as BRCA Responder, is an advocate, author, and producer providing support and education surrounding BRCA and other hereditary cancer syndromes. Her goal is to educate, entertain, and empower others through creative writing and film. Her medical memoir Resurrection Lily has won 14 literary awards and was a 2020 book club selection of the National Library of Medicine. She has also been an Executive Producer for multiple documentaries including The Two Dollar Bill Documentary and Pink & Blue: Colors of Hereditary Cancer. She is a producer on the feature film Love, Danielle.   Fun sidenote, before we hit record Devin Sidell was sharing what it was like to film the hilarious and viral “I Want It That Way” scene in Fox’s TV show Brooklyn Nine-Nine. It has gone viral with over 43 million views on YouTube alone. Devin plays the female character identifying the criminal.  Topics Covered How Devin’s personal BRCA1 positive experience inspired Love, Danielle The role of advocacy and why Amy joined the project as a producer Breast, ovarian, prostate, and other cancer risks linked to BRCA1/2 mutations Emotional realities of risk-reducing surgery and family dynamics in hereditary cancer Fertility, family planning, and their intersection with BRCA decision-making Misconceptions about BRCA testing and hereditary cancer syndromes The power of storytelling in changing public understanding of genetics Community, support networks, and the importance of patient voices Reflections on the response from the BRCA and previvor community Resources & Links LoveDanielleFilm.com  Upcoming Film Screenings  CALIFORNIA (Los Angeles) - Awareness Film Festival - Saturday, October 25th @ 7pm at Illusion Magic Lounge in Santa Monica. MASSACHUSETTS (Boston) - American Society of Human Genetics Conference - Friday, October 17th @ 7pm at Alamo Drafthouse Cinema Boston Seaport CONNECTICUT - Mystic Film Festival - Friday, October 3rd @ 2:30pm at United Theatre.   BRCAresponder.com DevinSidell.com FindAGeneticCounselor.com  Check out all the shows and films Devin Sidell has been an actress, writer and/or producer in via IMDb including Parks and Recreation, NCIS, Jane The Virgin, The Last Of Us Video Game, The OC, Ray Donovan, and so many more. Check out the documentaries Amy Byer-Shainman has produced via IMDb including Pink & Blue: Colors of Hereditary Cancer, The Two Dollar Bill Documentary, etc.    Relevant DNA Today Podcast Episodes  #25 Cancer Hereditary Experts Amy Byer-Shainman, Ellen Matloff & Georgia Hurst  #165 Sequencing for Cancer Risk with Sandra Balladares #159 Black Cancer Genes on Breast Cancer with Dena Goldberg (Dena DNA) & Erika Stallings #211 The Genome Defense’s Author Jorge Contreras On The Supreme Court Case for Gene Patents #309 Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship” #311 Mock Hereditary Breast and Ovarian Cancer Genetic Counseling Session Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].    All rights reserved to Corine Solberg/Getty Images for the image used as the episode tile. 

What’s the most common form of skeletal dysplasia? Achondroplasia, and that’s exactly what we’re exploring in this podcast episode of DNA Today.  Joining us is Dr. Janet Legare, a leading expert in pediatric genetics and skeletal disorders. She serves as the director of both the Midwest Regional Bone Dysplasia Clinic and the Neuromotor Development Clinic at UW Health Kids. With a long-standing research and clinical focus on achondroplasia, Dr. Legare is here to walk us through the condition’s genetic cause, clinical presentation, and the importance of a multidisciplinary care model. We also discuss non-invasive prenatal screening (NIPS), psychosocial support, and the community’s role through organizations like Little People of America.     Key Takeaways:  Achondroplasia is caused by a gain-of-function variant in the FGFR3 gene, which causes impairment of endochondral bone growth. 80% of cases occur de novo in families without a history of skeletal dysplasia. Multisystem complications beyond bone growth require coordinated care. NIPS may detect achondroplasia earlier than ultrasound in some cases. Tailored growth charts and tools like QoLISSY support tracking and quality of life. Psychosocial and community support is crucial, especially early in life. Misconceptions remain and genetic counseling plays a key role in correcting them.    Relevant Skeletal Dysplasia DNA Today Episodes:  #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer  #301 Dwarfism with Colleen Gioffreda  #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders)    Achondroplasia Resources:  Little People of America (LPA)  Dwarf Athletic Association of America (DAAA)  International Achondroplasia Forum  Achondroplasia GeneReviews  Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435.  Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010   Stay tuned... this episode is actually the first episode in a series about achondroplasia. In the next installment we will learn more about co-morbidities and multidisciplinary care. Then in the third episode will discuss currently available targeted therapy.   Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.   While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”  Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!   DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.   See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

The AGBT Precision Health 2025 Meeting took place this week at the sunny and gorgeous Loews Coronado Bay Resort in the San Diego, California area.  This conference brings together leading genomics researchers, healthcare professionals, and healthcare industry stakeholders to usher in a new era of precision medicine. Precision Health remains at the forefront of cutting-edge technologies, real-world implementation, and groundbreaking research in genomic medicine. Since its launch in 2016, this meeting has showcased the most impactful discoveries and large-scale initiatives shaping the future of healthcare—from national genomics strategies and international biobank efforts to hospital-driven diagnostic innovation and reimbursement models. Building on AGBT’s legacy of spotlighting transformative technologies and fostering public-private collaboration, the Precision Health Meeting emphasizes advances in clinical diagnostics, therapeutic development, and our growing understanding of genotype-phenotype relationships.   Some of the biggest names in genomics presented and we caught up with a few of them to capture their insights on the show to share with all of you. The Guests   Dr. Eric Green is the former director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). Throughout his career, he has authored and co-authored over 385 scientific publications. Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times!    Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics, where she leads their clinical strategy and ensures the highest standards in genetic testing for patients across all ages, especially children with rare, undiagnosed genetic disorders. She is also the Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. As a board-certified pediatrician and clinical geneticist, she has spent her career at the intersection of improving patient care, scientific innovation, and genomic medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. Stay tuned for a future episode where we dive deeper about RNAseq and other multi-omic approaches with Dr. Eng.    Marina Sirota is currently a Professor and the Acting Director at the Bakar Computational Health Sciences Institute at UCSF. Prior to that she has worked as a Senior Research Scientist at Pfizer where she focused on developing Precision Medicine strategies in drug discovery. She completed her PhD in Biomedical Informatics at Stanford University. Dr. Sirota’s research experience in translational bioinformatics spans nearly 20 years during which she has co-authored over 170 scientific publications. Her research interests lie in developing computational integrative methods and applying these approaches in the context of disease diagnostics and therapeutics with a special focus on women’s health. The Sirota laboratory is funded by NIA, NLM, NIAMS, Pfizer, March of Dimes and the Burroughs Wellcome Fund. As a young leader in the field, she has been awarded the AMIA Young Investigator Award in 2017. She leads the UCSF March of Dimes Prematurity Research Center at UCSF as well as co-directs ENACT, a center to study precision medicine for endometriosis. Dr. Sirota also is the founding director of the AI4ALL program at UCSF, with the goal of introducing high school girls to applications of AI and machine learning in biomedicine.   Resources: The Advances in Genome Biology and Technology (AGBT) website AGBT Precision Health Conference website  Baylor Genetics website Baylor Genetics to Showcase RNA Sequencing Breakthroughs for Rare Disease Diagnosis at 2025 AGBT Precision Health Meeting The Bakar Computational Health Sciences Institute at UCSF Li, Y., et al. (2025). Cell-type-directed network-correcting combination therapy for Alzheimer’s disease. Cell. Advance online publication. https://doi.org/10.1016/j.cell.2025.06.035   Relevant DNA Today Episodes: #19 Obama’s Precision Medicine Initiative #29 Precision Medicine Initiative and 21st Century Cures Act #150 Euan Ashley and Stephen Quake on The Genome Odyssey #172 PhenoTips: Advances in Rare Disease Diagnosis #182 Eric Green on the Complete Human Genome Project  #260 PhenoTips: Population Genomics in Clinical Practice #214 Genetics Wrapped 2022 #236 Assessing for Alzheimer’s Disease with Quest Diagnostics #266 Genetics Wrapped 2023 #318 Genetics Wrapped 2024   Mark your calendar for the general AGBT conference in Orlando, FL from Feb 23rd to 26th, which I am hoping to attend. And September 2026 in Coronado, California for next year’s AGBT Precision Health conference.  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Happy September and back-to-school season, going with this theme we are sharing an episode from a show in our Science Podcast Network, Gene Pool Media. The podcast is called Beyond The Thesis with Papa PhD. It’s hosted by the wonderful Dr. David Mendes and in this episode that you are about to hear he interviews me.    We recorded this three years ago, but as I was listening back to our conversation, I realized it was still relevant and timely with most, if not all, applications for genetic counseling and other graduate schools now open. We also chat about science communications and networking and other important aspects of a science career.    Over the years I’ve mentored dozens of applicants through this application process and enjoy being a part of their journeys where I can offer advice along the way. I thought it would be helpful to adapt this into a formal group so a couple years ago we launched a Patreon geared specifically towards DNA Today listeners who are going through the GC application process. So I’ll throw that in the show notes or you can go to Patreon.com/DNATodayPodcast if you want to join, especially for our monthly Zoom chats about applications.    As we mentioned above, this episode originally aired on Beyond The Thesis with Papa PhD, which is one of 10 shows in our new science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  Parálisis Cerebral Respuestas Two brand new shows debuting later this year  If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at [email protected]. I’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network.   Episode Topics:  Grad School Application Best Practices: Insights into personal branding, networking, and navigating the application process for grad school. Science Communication's Role: How podcasting and other forms of science communication have influenced Kira Dineen's career as a genetic counselor. Networking and Personal Branding: The importance of networking and personal branding in building a career, especially when academic grades aren't stellar. Genetic Counseling Career Path: The educational requirements and career path for becoming a genetic counselor in the US and Canada. Communication Skills: The critical role of communication skills in both academic and professional settings, particularly in science-related fields. Informational Interviews: The value of conducting informational interviews to build connections and gain insights into potential career paths. Personal Statement Writing: Tips for crafting a compelling personal statement for grad school applications. DNA Today Relevant Episodes:  #87 Genetic Counseling Grad School Apps (Part 1)  #97 Genetic Counseling Grad School Interviews, Ranking, Matching (Part 2)  #101 Genetic Counseling Match Day  #193 Genetic Counseling Application Advice with GC Prep: Part 1  #194 Genetic Counseling Application Advice with GC Prep: Part 2 #245 Genetic Counseling Program Applications: Part 1 #246 Genetic Counseling Program Applications: Part 2 Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What does it really take to move the needle on health equity for rare diseases, especially on Capitol Hill? In this episode, we are joined by Jenifer Waldrop, Executive Director of the Rare Disease Diversity Coalition (RDDC). Under her leadership, the coalition is tackling systemic inequities across the rare disease journey, from timely diagnosis to clinical trial access, treatment development, and sustained care. With partnerships across biotech, government, and patient advocacy groups, RDDC is reshaping the policy landscape to ensure historically underrepresented communities are not left behind. Right now we are capturing Jenifer’s insider perspective on advocacy strategies, legislative progress, and how every member of the rare disease community can engage in meaningful change.  Topics Covered in This Episode: Why the Rare Disease Diversity Coalition (RDDC) was created Unique health disparities impacting rare disease patients Barriers faced by black, brown, and LGBTQ+ communities in rare disease care Collaborations between advocacy organizations and biotech leaders like Amgen Legislative efforts, including RDDC’s HEARD (H.R.1750) health equity bill with Rep. Marilyn Strickland Strategies for engaging Congress and policymakers effectively How patients and families can prepare for Capitol Hill advocacy meetings Practical advice for advocates who feel powerless but want to get involved Long-term vision for advancing equity in rare disease research, care, and policy Resources:  Rare Disease Diversity Coalition (RDDC) Website The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) H.R.1750 - HEARD Act of 2025 (Health Equity and Rare Disease Act of 2025)  The Tuskegee Syphilis Study   We Work For Health  Relevant DNA Today Episodes :  Amgen's Urea Cycle Disorder Series Part 1: #282 The Evolution of Caring for Females With OTC Deficiency Amgen's Urea Cycle Disorder Series Part 2: #323 Supporting Ongoing Urea Cycle Disorder (UCD) Care Amgen's Urea Cycle Disorder Series Part 2: #338 Social Determinants of Health and Mental Health in Urea Cycle Disorders   Connect with DNA Today: Shoutout to listener Grace Dougherty for recommending Jenifer Waldrop to be a guest on the show! Do you have someone you want to hear on DNA Today? Send a pitch to [email protected].  Get ready, genetic nerds—another brand-new episode of DNA Today drops next Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

What if we could ease the suffering of patients with undiagnosed or rare diseases? In this episode, we explore how genomics is reshaping care for some of the most medically complex patients, focusing on the rare disease landscape in Turkey. Our guests are Professor Serdar Ceylaner, a leading medical geneticist and founder of the Intergen Center for Genetics and Rare Disease Diagnosis and Research, and Alice Peng from MGI Tech, a global leader in gene sequencing innovation. Together, they offer a powerful global perspective on the challenges and solutions in rare disease diagnostics, from rapid whole genome sequencing in the NICU to affordable access in developing regions.   Alice (Yao) Peng, Sales Manager of MGI, is responsible for the Turkish Market. She has been working in the genomics field for eight years, the last five have been with MGI. Her background is in preventive medicine, and she is passionate about bringing innovative genetic solutions to customers in Turkey.    Professor Dr. Serdar Ceylaner is a medical doctor - medical geneticist who focuses on rare and undiagnosed diseases for both diagnosis and scientific studies. He is the director, partner and founder of Intergen Genetics and Rare Diseases Diagnostic and Research Center and Lokman Hekim University, Department of Medical Genetics. He holds various leadership positions including being the Vice President of the Rare and Undiagnosed Diseases Committee, of the  European Union of Medical Specialists (UEMS).  Dr. Ceylaner is the former president of the Turkish Medical Genetics Association. He was the founder of the Genetics Department of Zekai Tahir Burak Women's Health and Training Hospital between 1997 and 2017. He has focused on genetics and rare diseases and studies in this field for 30 years. He established a center for diagnosis, research and educational work in this field. Undiagnosed diseases, medical complications, and intensive care unit patients are the main research areas in recent years. He has experience in more than 250 international publications, 10 book chapters, more than 500 conferences, and more than 50 scientific projects. Topics include: The rare disease burden in Turkey and the impact of consanguinity Prevalence of dual or triple diagnoses in Turkey and the impact of tailoring treatment  Why exome and genome sequencing are replacing panel testing The diagnostic power of rapid WGS in NICUs Tools MGI offers to accelerate analysis and interpretation Making sequencing more accessible in low-resource settings The role of genomics in precision prescribing Opportunities to improve patient quality of life post-diagnosis What’s next for sequencing innovation and rare disease care Relevant Resources: DNA Today Episode #109 Shenela Lakhani on Genetic Counseling in Qatar  The Undiagnosed Diseases Network (UDN) MGI’s Sequencing Platforms Dr. Serdar Ceylander’s INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center Connect With Us Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].