PODCAST · science
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
This podcast is about the advancement of rare disease research told by health professionals, researchers, parents and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear stories from experts who treat babies, the families who care for them, and the researchers who make it all happen. We are your co-hosts, Drs. Kee Chan and Amy Brower. We are from the Newborn Screening Translational Research Network (also known NBSTRN). Our work is supported by one of the institutes at the National Institutes of Health in Bethesda Maryland called the Eunice Kennedy Shriver National Institute of Child Health and Human Development (also known as NICHD). Dr. Chan and I are from the American College of Medical Genetics and Genomics (also known as ACMG) and ACMG leads the NBSTRN. Screening babies saves lives every day, and research advances newborn screening by developing new te
Episodes
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Innovative Blood and Marrow Transplant & Gene Therapy for Rare Diseases
Dr. Paul Orchard is the Medical Director of the Inherited Metabolic and Storage Disease Program and a Professor in the Department of Pediatrics in the Division of Blood and Marrow Transplant & Cellular Therapy (BMT & CT) at the University of Minnesota. He is interested in using hematopoietic stem...
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Lifting the Voices of the Community in the Rare Disease World Through Storytelling
If you need a boost of inspiration, a bit of laughter, and a lot of intention, listen to our special guest on the Newborn Screening SPOTlight podcast Effie Parks, who transformed her experiences raising a son with a rare disease to helping others by sharing their stories on her podcast, Once Upon…
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The Role of Medical Genetics in Newborn Screening and Genome Sequencing
Join us on the Newborn Screening SPOTlight podcast with Dr. Jerry Vockley, who is a Professor of Human Genetics, the Graduate School of Public Health, Cleveland Family Endowed Pediatric Research, School of Medicine, Chief of Genetic and Genomic Medicine, UPMC Children’s Hospital of Pittsburgh…
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North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) and Early Check Project
Today, on the Newborn Screening SPOTlight podcast, we are thrilled to have Dr. Cynthia Powell join us to share her vision of genomic sequencing in newborn and her experience as the Past Chair of the U.S. federal Advisory Committee on Heritable Disorders in Newborns and Children. Dr. Powell is a...
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Living with Phenylketonuria (PKU) and Caring for Patients with PKU
This episode features Brittany Holmes who is a nurse practitioner in the Metabolism Program in the Genetics & Genomics division at Boston Children’s Hospital. She is an experienced provider who specializes in caring for patients with inborn errors of metabolism. She serves on the Board of…
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Advocacy Work for Newborn Screening Research and Treatment for Sickle Cell Disease
Every state screens for sickle cell disease and researchers are working with industry and advocates to develop new ways to improve the health outcomes of individuals living with sickle cell disease. Today, on the Newborn Screening SPOTlight podcast, we welcome Yvonne Carroll, RN, JD who is…
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Complementing Newborn Screening with Rapid Whole Genome Sequencing (rWGS) for Rare Diseases in Infants
We are thrilled to have Dr. Stephen Kingsmore, a dedicated physician, researcher, an inventor, and who is the currently the President/CEO of Rady Children's Institute for Genomic Medicine in San Diego, California. In this podcast, you will not only learn what drives Dr. Kingsmore’s purpose to...
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Advancing Newborn Screening Research Through Rare Disease Awareness, Support and Advocacy
For the rare disease community, there is a common motto “alone we are rare, together we are strong”. Advocacy organizations play this important role in connecting families of rare disease , amplifying their voices and helping to improve health outcomes for people living with rare diseases.…
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A Clinical and Molecular Geneticist Impacting Newborn Screening Research in Congenital Heart Disease, Duchenne Muscular Dystrophy and the GUARDIAN study
Listen to Dr. Wendy Chung, a board-certified clinical and molecular geneticist with over 20 years of experience in human genetic research, share her story. Her team has led ground-breaking research describing the genetic basis of both rare and common genetic diseases, and the development of...
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Family Engagement, Diversity, Equity, and Inclusion (DEI) Access in Newborn Screening Research
Family engagement and rare disease advocacy drive the innovations and accelerate the discoveries that advance newborn screening research. Today, we are excited to have Natasha Bonhomme, a health communications strategy and family engagement expert who has led ground-breaking initiatives to…
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Genetic Counseling & Diversity, Equity and Inclusion (DEI) Justice in Newborn Screening Research and Workforce
Welcome to the Newborn Screening Spotlight! Today’s episode highlights the important role genetic counselors play in the diagnosis, care, and lifelong management of newborns diagnosed with a disease through newborn screening. Genetic counseling helps families better understand available…
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Research and Advocacy for Newborn Screening for Mucopolysaccharidosis II (MPS II/Hunter Syndrome)
Today, we are joined by Dr. Zhanzhi Hu (aka Mike) who is the co-founder and President of Project GUARDIAN, a nonprofit organization with the mission of advancing genomics-based newborn screening where they have a mission of genome sequencing 100,000 babies in New York City. His dedication and...
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Genomics England: The Role of Genomic Sequencing of Newborns
In the United States, shortly after birth, every newborn receives a series of screening tests to identify treatable diseases. Every September we celebrate this amazing system of research, public health, and clinical care that saves the lives of babies every day with Newborn Screening Awareness...
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The Ethical, Legal, and Social Implications (ELSI) of Newborn Screening Research
We are excited to welcome Dr. Jeffrey Brosco to the NBSTRN SPOTlight today. Dr. Brosco will share moving stories from his lifetime of experiences caring for children and families as a clinician who specializes in Developmental-Behavioral Pediatrics. Dr. Brosco has both an M.D. and a Ph.D. degrees...
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Newborn Screening Pilot Studies
Today on the Newborn SPOTlight we welcome a national leader in newborn screening research and clinical care, Dr. William Wilcox. Dr. Wilcox is the medical director of the Emory Lysosomal Storage Disease Center and Genetic Clinical Trials Center in Georgia. He was a medical graduate of the UCLA...
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Congenital Cytomegalovirus (CMV)
Listen as Dr. Megan Pesch shares her journey to becoming a parent advocate and a researcher in Cytomegalovirus (also called CMV). Dr. Pesch is an Assistant Professor of Developmental and Behavioral Pediatrics at the University of Michigan where she is the Director of the Congenital CMV...
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American Society of Gene and Cell Therapy
Advances in gene and cell therapies are enabling researchers, clinicians, families, and regulators to work together in incredible new ways to treat previously untreatable conditions. Listen to Christina Mayer share her efforts to advance policies that help to realize a future where gene and cell...
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SCID Angels for Life Foundation
Listen as Barb Ballard shares her long history of advocacy and innovative efforts in newborn screening. Barb is currently the Director of SCID Angels for Life Foundation. Her involvement with the non-profit sector began after her son, Ray, born in 1994, was diagnosed at 10 ½ months old with...
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The Legacy of Angels Foundation (TLOAF) for Krabbe Disease, Cystic Fibrosis, and Newborn Screening
In this episode, we welcome Stacy L. Pike-Langenfeld to the Newborn Screening SPOTlight. For many years, Stacy and her family have championed newborn screening research in profound ways through their foundation, called The Legacy of Angels Foundation. Stacy is currently the Executive Director of...
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Neonatology in Newborn Screening Research
In this episode, listen as Dr. Richard Parad, a Neonatologist and the Director of the Newborn Genomics Program in the Department of Pediatric Newborn Medicine at Brigham and Women’s Hospital, Boston, MA shares his journey to save babies through newborn screening (NBS). Thirty years ago, the...
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Duchenne Muscular Dystrophy (DMD)
In this episode, you will hear from Dr. Michele Lloyd-Puryear talk about the diagnosis process and current intervention for Duchenne Muscular Dystrophy also known as DMD. We will learn how parent lay advocacy group plays a role in NBS and NBS research. Whether you’re a parent, health…
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Newborn Screening for Spinal Muscular Atrophy (SMA)
You’re listening to the voice of Dr. Kathy Swoboda, who is the Katherine B. Sims MD Endowed Chair in Neurogenetics and Director of the Neurogenetics Unit in the Center for Genomic Medicine at the Massachusetts General Hospital and Harvard Medical School. Her research and clinical activities are...
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Exploring the Newborn Screening System from Discovery to Diagnosis
You're listening to the voice of Dr. Jennifer Taylor, a Genomic Scientist at the American College of Medical Genetics and Genomics (ACMG), who is working on several projects at the Newborn Screening Translational Research Network. In this episode, Dr. Taylor explores the newborn screening system...
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Getting on the "List" - Recommended Uniform Screening Panel (RUSP)
You're listening to the voice of Dr. Amy Brower, the co-host of the Newborn Screening SPOTlight Podcast. This episode focuses on the common question, What does it take to get on the "list"? The list refers to the Recommended Uniform Screening Panel (RUSP) which is a national guideline for newborn...
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Caring for my child with ADA-SCID
You’re listening to the voice of Caroline Nachem who currently lives in VA with her husband and two children. She graduated from Old Dominion University in Virginia with a degree in history and studied anthropology. She became a stay-at-home mom when her daughter was born, and shortly after was...
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A Brief History of Newborn Screening
You’re listening to the voice of Dr. Rodney Howell, who is a Professor and Chairman Emeritus of Pediatrics and Emeritus Member of the Hussman Institute for Human Genomics at The Miller School of Medicine of the University of Miami. He is certified by the American Board of Pediatrics as well as…
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Newborn Screening SPOTlight Podcast Trailer
Hello, this is the “Newborn Screening SPOTlight”. This podcast is about the advancement of rare disease research told by health professionals, researchers, parents and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through…
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ABOUT THIS SHOW
This podcast is about the advancement of rare disease research told by health professionals, researchers, parents and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear stories from experts who treat babies, the families who care for them, and the researchers who make it all happen. We are your co-hosts, Drs. Kee Chan and Amy Brower. We are from the Newborn Screening Translational Research Network (also known NBSTRN). Our work is supported by one of the institutes at the National Institutes of Health in Bethesda Maryland called the Eunice Kennedy Shriver National Institute of Child Health and Human Development (also known as NICHD). Dr. Chan and I are from the American College of Medical Genetics and Genomics (also known as ACMG) and ACMG leads the NBSTRN. Screening babies saves lives every day, and research advances newborn screening by developing new te
HOSTED BY
Dr. Kee Chan and Dr. Amy Brower
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Frequently Asked Questions
How many episodes does Newborn Screening SPOTlight Podcast have?
Newborn Screening SPOTlight Podcast currently has 27 episodes available on PodParley. New episodes are automatically indexed when they're published to the podcast feed.
What is Newborn Screening SPOTlight Podcast about?
This podcast is about the advancement of rare disease research told by health professionals, researchers, parents and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear...
How often does Newborn Screening SPOTlight Podcast release new episodes?
Newborn Screening SPOTlight Podcast has 27 episodes. Check the episode list to see recent publication dates and frequency.
Where can I listen to Newborn Screening SPOTlight Podcast?
You can listen to Newborn Screening SPOTlight Podcast on PodParley by clicking any episode. We provide an embedded audio player for direct listening, and you can also subscribe via your preferred podcast app using the RSS feed.
Who hosts Newborn Screening SPOTlight Podcast?
Newborn Screening SPOTlight Podcast is created and hosted by Dr. Kee Chan and Dr. Amy Brower.
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