Explore cutting-edge research and innovative approaches in rare disease treatment through this comprehensive conference recording from the Broad Institute's 9th annual Rare Disease Day event. Delve into topics ranging from interventional genetics and orphan drug development to variant interpretation and patient-driven research agendas. Learn from expert speakers as they discuss advancements in areas like Duchenne muscular dystrophy, building rare disease biotech companies, and leveraging population data for improved diagnostics. Gain insights into the challenges and opportunities in rare disease research, including novel genome engineering techniques and strategies for finding undiagnosed patients. This event, featuring collaborations between the Broad Institute and The Termeer Foundation, offers valuable perspectives for researchers, healthcare professionals, and anyone interested in the future of rare disease treatment.
Climbing Ladders to Cures in Rare Disease Research - Rare Disease Day 2024
Overview
Syllabus
Introduction and opening remarks by Jillian Shaw
Welcome remarks by Belinda Termeer
The Dawn of Interventional Genetics by Winston Yan
Lift Every Valley: Duchenne Muscular Dystrophy by Michelle Rengarajan
Niche to NewCo:Lessons and Pearls for Building a Rare Disease Biotech by Nicole Galant Paradox
Inside the Orphan Drug revolution by Jim Geraghty
Using Pop Data to Improve Variant Interpretation by Kaitlin Samocha
Finding Undiagnosed Patients and Launching Treatments by Lukas Lange
Exploring and Exploiting Human Virus-like Proteins for Genome Engineering by Michael Segel
Enabling Lived Experience to Drive the Research Agenda by Sunitha Malepati
Closing Remarks and Rock and Rare Announcement by Jillian Shaw
Taught by
Broad Institute
