Solving Medical Mysteries in the World of Rare Disease

Published: March 23, 2021, 1 p.m.

b'In this conversation, Stanford Professor Euan Ashley\\u2014geneticist, cardiologist, author of the new book, The Genome Odyssey, and first co-chair of the Undiagnosed Diseases Network\\u2014talks with Bio Eats World host Hanne Winarsky about one of the first places that genomic sequencing began to dramatically impact patients\\u2019 lives, and those of their families around them: in rare disease. \\n\\nRare disease is by definition, well, rare. But collectively, it\\u2019s surprisingly common: 1 in 15. In this episode, we talk about how rare disease became the clear first use case for genome or exome-scale sequencing, and how sequencing\\u2014and other new technologies, and the new information they give us\\u2014is changing how rare disease gets diagnosed. Ashley tells the stories of how the Undiagnosed Disease Network solved some of the most perplexing medical mysteries with cutting edge tools and technologies; and the lessons learned from the world of rare disease that we can use to impact our knowledge and our treatment of those with common disease.'