10th Annual Rare Disease Day Event: An Era of Innovation for Rare Diseases (2025) скачать в хорошем качестве

10th Annual Rare Disease Day Event: An Era of Innovation for Rare Diseases (2025)

10th Annual Rare Disease Day Event: An Era of Innovation for Rare Diseases February 25, 2025 Broad Institute of MIT and Harvard This event was originally broadcast live on YouTube. This year, the Broad Institute’s Ladders to Cures Scientific Accelerator in collaboration with The Termeer Foundation are hosting the 10th Annual Rare Disease Day Event: An Era of Innovation for Rare Diseases, featuring opening remarks from Anna Greka and Belinda Termeer, and a lineup of speakers from the rare disease space including Anne Carpenter, Richard Novak, Arya Rao, Effie Parks, Tinashe Chandauka, Bart Scheerder, Nathan Guo, Ada Lio, Avanthi Raghavan, and Masako Nakamura. 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. The Ladders to Cures Scientific Accelerator 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. Agenda 00:00 Welcome Remarks Anna Greka | Harvard Medical School, Mass General Brigham; Kidney Disease Initiative, Ladders to Cures Accelerator, Broad Institute Belinda Termeer | Termeer Foundation 08:00 SCIENTIFIC KEYNOTE: Systematic discovery for rare disease using cell images Anne Carpenter | Institute Scientist, Broad Institute 39:43 PATIENT ADVOCACY KEYNOTE: Parents Accelerating a Cure for ZTTK Syndrome Ada Lio | Executive Director & Board Member, ZTTK SON-Shine Foundation Nathan Guo | Scientific Director & Board Member, ZTTK SON-Shine Foundation 01:07:54 Patients First: Revolutionizing the drug development paradigm by partnering with patients Richard Novak | CEO, Unravel Biosciences; Termeer Fellow 01:31:22 Traversing Novel Sequence Space to Engineer Next-Generation Cures for Rare Disease Arya Rao | MD-PhD Candidate, Harvard/MIT MD-PhD Program 01:45:38 A Reflection of the last 10 years Effie Parks | Advocate; Podcast Host, Once Upon A Gene 02:01:14 Multimodal approaches for identifying therapeutic targets for Marfan Syndrome Avanthi Raghavan | Postdoctoral fellow, Ellinor Lab, Broad Institute; Cardiologist, Mass. General Hospital 02:16:32 Cures through company creation: Nandi’s fight against cancer, autoimmune and rare diseases Tinashe Chandauka | Co-Founder & NED, Nandi Life Sciences; Termeer Fellow 02:33:24 An AI ready healthcare system to expedite diagnosis and optimize therapies in rare diseases Bart Scheerder | AI Strategist, UMCG; Termeer Mentor 02:51:15 PANEL DISCUSSION: Patients Driving Scientific Breakthroughs Moderator: Anna Greka Panelists: Nathan Guo, Ada Lio, Effie Parks, Richard Novak, & Anne Carpenter 03:11:22 Closing remarks For more information visit: https://broad.io/RDD2025 Copyright Broad Institute, 2025. All rights reserved.