Rare Disease Day

Rare Disease Day is an international event held in late February to raise awareness about the impact on patients and need for research.

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.


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

Watch the eventView the agenda



Click to view the 2024 agenda.

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

The event took place on Wednesday, February 28, 2024 in the auditorium of the Merkin Building at the Broad Institute of MIT and Harvard (415 Main Street, Cambridge, MA 02142). 

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.

Questions? Email kliguori@broadinstitute.org.


Past Focus on Rare Disease events


Virtual Gallery Tour

View a Beyond the Diagnosis virtual gallery tour here.

The Beyond the Diagnosis exhibit is on view to Broadies in the Ted and Vada Stanley Building lobby, 75 Ames Street, Cambridge.