Rare Disease Day

Rare Disease Day is an international event held on the last day of February to raise awareness about the impact of rare diseases on patients’ lives and to emphasize the need for research. In the United States, a disease is considered “rare” if it affects fewer than 200,000 individuals. More than 7,000 diseases fit the bill, and all told, between 25 and 30 million Americans are living with a rare disease. The majority of these diseases are genetic.

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.

We are proud to host the Beyond the Diagnosis art exhibit each spring, featuring portraits of children with rare diseases. Beyond the Diagnosis puts a human face on rare disease. Created and donated by accomplished artists, the exhibit travels to medical schools, hospitals, and research centers worldwide, encouraging those in the biomedical community to look “beyond the diagnosis” and see the people most affected by rare diseases — namely, patients and their families.

Images courtesy of the Beyond the Diagnosis

Questions? Email shannon@broadinstitute.org.


Rare Disease Day 2023 | Accelerating Rare Disease Research: Patients as Partners

Watch the event. | View the agenda



Click to view the 2023 agenda.

To mark Rare Disease Day, each year the Broad Institute organizes a Focus on Rare Disease event showcasing rare disease research in our community. We are also proud to host the Beyond the Diagnosis art exhibit each spring, featuring portraits of children with rare diseases.

On February 27, 2023, Broad Institute of MIT and Harvard in collaboration with The Termeer Foundation hosted “Accelerating Rare Disease Research: Patients as Partners” to highlight both the patient and research perspectives, including remarks from Anna Greka, Belinda Termeer, Vamsi Mootha, Yael Weiss, Daniel Fischer, Tania Simoncelli, Eric Pierce, and a panel discussion focusing on partnering with patients to empower progress featuring Samantha Baxter, Charlene Son Rigby, Eric Pierce, Daniel Fischer, Yael Weiss, Vamsi Mootha, and Tania Simoncelli.

Questions? Email kliguori@broadinstitute.org.



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. 


Past Focus on Rare Disease events