Bio Eats World

Solving Medical Mysteries in the World of Rare Disease

Episode Summary

In this conversation, Stanford Professor Euan Ashley—geneticist, cardiologist, author of the new book, The Genome Odyssey, and first co-chair of the Undiagnosed Diseases Network—talks with Bio Eats World host Hanne Winarsky about one of the first places that genomic sequencing began to dramatically impact patients’ lives, and those of their families around them: in rare disease. Rare disease is by definition, well, rare. But collectively, it’s 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—and other new technologies, and the new information they give us—is 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.