#172 PhenoTips: Advances in Rare Disease Diagnosis

DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “Advances in Rare Disease Diagnosis”, which is hosted by Kira’s colleague, Dr. Pawel Buckowicz. With over 6,000 rare diseases, reaching diagnosis is a long and arduous process for the 300 million people worldwide affected by rare disease. Advances in technology, collaboration, bioinformatics and more hold the promise to end or reduce this diagnostic odyssey. To address these advancements, PhenoTips invited Dr. Stephen Kingsmore, Dr. Marshall Summar, and Dr. Ellen Thomas. Dr. Stephen Kingsmore, the inaugural President & CEO of the Rady Children’s Institute for Genomic Medicine, previously held roles as Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, President & CEO of the National Center for Genome Resources, and Chief Operating Officer of Molecular Staging Inc. Dr. Kingsmore’s rapid genome diagnosis was ranked as one of the top 10 medical breakthroughs of 2012 by TIME magazine, and his 26-hour genetic sequencing garnered him the Guiness World Record for the fastest genetic sequencing in the world. Dr. Marshall Summar is the Margaret O’Malley Professor of Genetic Medicine and Chief of the Division of Genetics and Metabolism at Children’s National Hospital. In addition, he launched and directs Children’s National’s first clinical Rare Disease Institute, the largest clinical division of its kind treating over 8,000 rare disease patients per year. Dr. Summar currently chairs the National Organization for Rare Disorders’ Scientific and Medical Advisory Committee as well as Co-Chairing the Research Committee for the Rare Disease Diversity Coalition. His research focuses on adapting knowledge from rare diseases to mainstream medicine. Dr. Ellen Thomas is Clinical Lead for Rare Disease and Clinical Safety Officer at Genomics England, Clinical Advisor to the Genomics Unit at NHS England and Improvement, and a Consultant in Clinical Genetics at Guy’s and St Thomas’ NHS Trust. As part of the Genomics England Science Team led by Professor Sir Mark Caulfield, she has worked on delivery of the 100,000 Genomes Project, and now focuses primarily on Genomics England’s contributions to the Genomic Medicine Service, as well as supporting the interface between research and clinical care for participants and researchers within the National Genomic Research Library. In this panel discussion moderated by Dr. Pawel Buczkowicz, leading rare disease clinicians and researchers address: The latest technological advances helping to reduce the diagnostic odyssey for patients The greatest challenges faced by patients and clinicians and methods to overcome them The role of bioinformatics in the analysis of large datasets generated from sequencing The role of rare disease diagnosis in precision medicine. Tune in for the next PhenoTips Speaker Series with our host Kira Dineen! Join us live on March 23rd from 11 am – 12:15 pm EST, for the 18th installment of PhenoTips’ Speaker Series, “Future of Hereditary Cancer Genetic Counseling”. The Future of Hereditary Cancer Genetic Counseling is a panel discussion and interactive Q & A with Jill Stopfer, Associate Director of Genetic Counseling at the Dana Farber Cancer Institute, Jessica Corredor, Senior Genetic Counselor at the University of Texas MD Anderson Cancer Center, and Emily Nazar, Lead Cancer Genetic Counselor at Genome Medical. Register for free here. Stay tuned for the next new episode of DNA Today where we wrap up our rare disease month celebrations with Keith McArthur from Unlocking Bryson’s Brain podcast! New episodes are released on Fridays. In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Preparing for a career in genetics? Keck Graduate Institute in Claremont, California, is a recognized leader in healthcare and biotech education and offers two master's programs ideal for those looking to impact the genetics field. The master's in human genetics and genetic counseling will train you to become an innovative, collaborative, and caring genetic counselor. The master's in human genetics and genomic data analytics will give you hands-on experience with the technologies and information revolutionizing the future of medicine. Learn more about KGI's innovative programs by visiting kgi.edu. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)