Playing the Genetic Lottery: Understanding Rare Diseases

Carry the One Radio: The Science Podcast

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3y ago 49:25

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Roughly 4% of the world’s population is affected by a rare disease, and while we are learning every day how to better diagnose and treat these conditions, there is still much to uncover. Rare Disease Day, which lands on the last day of February every year, seeks to raise awareness and improve access to care for patients and families living with rare diseases. For both scientific and clinical perspectives, we speak with Dr. William Gahl from the NIH, as well as Linda Manwaring, a genetic counselor from Washington University in St. Louis. In addition, we hear directly from a young patient named Aiden and his caregiver, Shaun, about their experiences living with a rare disease.
This episode was written and produced by Iris Chin, Marilyn Steyert, and Devika Nair with editing help from the rest of the CTOR team. Music used in this episode is by Blue Dot Sessions.
For more information on Rare Disease Day, visit https://www.rarediseaseday.org/, and to learn more about the Undiagnosed Disease Network, visit https://undiagnosed.hms.harvard.edu/.

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