Rare Disease Day 2024: Climbing Ladders to Cures in Rare Disease Research

Broad Institute of MIT and Harvard in collaboration with the Termeer Foundation present:
Rare Disease Day 2024: Climbing Ladders to Cures in Rare Disease Research
February 28, 2024
Broad Institute Auditorium

Rare genetic diseases are collectively common: they affect 1 in 10 people in North America. While more than 8,000 genes are known to drive these diseases, fewer than 500 have an available treatment. The mismatch in these numbers underscores the urgent need to disrupt the status quo and develop new approaches to deliver precision cures at scale.

This year, Broad Institute of MIT and Harvard in collaboration with The Termeer Foundation are hosting the 9th annual Rare Disease Day event, “Climbing Ladders to Cures in Rare Disease Research”, featuring opening remarks from Jillian Shaw and Belinda Termeer, and speakers Winston Yan, Michelle Rengarajan, Natalie Galant, Jim Geraghty, Kaitlin Samocha, Lukas Lange, Michael Segal, and Sunitha Malepati.

The event was recorded and broadcast live February 28, 2024 in the auditorium of the Merkin Building at the Broad Institute of MIT and Harvard.

Broad Institute is committed to uncovering the genetic roots of rare diseases and to using those insights to develop new treatments. With projects spanning multiple disease areas, Broad scientists are using genetics, functional genomics, computational biology, and chemical biology to better understand and ultimately seek effective treatments for rare diseases.
Building on the bold legacy of Henri Termeer, who pioneered groundbreaking treatments for rare diseases, The Termeer Foundation is a nonprofit organization working to connect the world of healthcare innovators until every patient has a cure.

Chapters
00:00 Introduction and opening remarks by Jillian Shaw
02:48 Welcome remarks by Belinda Termeer
07:20 The Dawn of Interventional Genetics by Winston Yan
37:45 Lift Every Valley: Duchenne Muscular Dystrophy by Michelle Rengarajan
56:55 Niche to NewCo:Lessons and Pearls for Building a Rare Disease Biotech by Nicole Galant Paradox
01:19:05 Inside the Orphan Drug revolution by Jim Geraghty
01:44:20 Using Pop Data to Improve Variant Interpretation by Kaitlin Samocha
02:13:41 Finding Undiagnosed Patients and Launching Treatments by Lukas Lange
02:28:50 Exploring and Exploiting Human Virus-like Proteins for Genome Engineering by Michael Segel
02:43:09 Enabling Lived Experience to Drive the Research Agenda by Sunitha Malepati
03:03:39 Closing Remarks and Rock and Rare Announcement by Jillian Shaw

For more information visit: https://www.broadinstitute.org

Copyright Broad Institute, 2024. All rights reserved.