This week on The Genetics Podcast, Patrick is joined by Dr. Timothy Yu, Associate Professor of Pediatrics at Harvard Medical School and Physician/Researcher at Boston Children’s Hospital. They discuss how one child’s hidden genetic mutation led Tim into individualized ASO medicine, what it takes to develop n-of-1 therapies, and how new regulatory frameworks could expand treatment options for children with ultra-rare genetic disease.
Show Notes
0:00 Intro to The Genetics Podcast
01:00 Welcome to Tim
02:05 How uncovering the genetic mutation underlying an ultra-rare disease led Tim into personalized ASO medicine
07:38 Challenges in developing a custom ASO
12:25 How Tim’s team has scaled individualized ASO therapies to reach more than 50 patients worldwide
16:18 Measuring clinical benefit in n-of-1 therapies with natural history data, wearables, and biomarkers
20:24 How the N-of-1 Collaborative helps rare disease researchers share infrastructure
24:28 Comparing ASOs, base editing, and prime editing for individualized rare disease therapies
30:06 Finding scalable models for n-of-1 therapies in newborn genetic disease
33:52 The potential impact of the FDA’s Plausible Mechanism framework on bespoke therapies
36:58 Connecting rapid newborn genome sequencing to earlier treatment for rare genetic disease
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