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Using Pop Data to Improve Variant Interpretation by Kaitlin Samocha
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Classroom Contents
Climbing Ladders to Cures in Rare Disease Research - Rare Disease Day 2024
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- 1 Introduction and opening remarks by Jillian Shaw
- 2 Welcome remarks by Belinda Termeer
- 3 The Dawn of Interventional Genetics by Winston Yan
- 4 Lift Every Valley: Duchenne Muscular Dystrophy by Michelle Rengarajan
- 5 Niche to NewCo:Lessons and Pearls for Building a Rare Disease Biotech by Nicole Galant Paradox
- 6 Inside the Orphan Drug revolution by Jim Geraghty
- 7 Using Pop Data to Improve Variant Interpretation by Kaitlin Samocha
- 8 Finding Undiagnosed Patients and Launching Treatments by Lukas Lange
- 9 Exploring and Exploiting Human Virus-like Proteins for Genome Engineering by Michael Segel
- 10 Enabling Lived Experience to Drive the Research Agenda by Sunitha Malepati
- 11 Closing Remarks and Rock and Rare Announcement by Jillian Shaw
