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Rare Disease Day

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.

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. 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.

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.

The seminar is open to the public. In 2021 the exhibit is on view for Broadies only due to building restrictions in place to prevent the spread of COVID-19. However, we invite you to view the virtual gallery tour.

Images courtesy of the Beyond the Diagnosis


Rare Disease Day 2021

Focus on rare disease: Prime time — gene therapy for rare disorders

Sixth annual seminar showcasing rare disease research.

Wednesday, March 3
2:00 ‒ 3:00 p.m. 

Watch the video.

Open to all Broadies and the general public. Questions? Email


2:00 pm Welcome
Anna Greka, Broad Institute, Brigham and Women’s Hospital, Harvard Medical School 
2:05 pm Polr3a Neonatal Progeroid Syndrome: A Medical Mystery
Leslie Macari, parent of a rare disease patient 
2:15 pm Keynote Lecture
Base Editing and Prime Editing: Genome Editing Without Double-Strand Breaks
David Liu, Broad Institute, Harvard University, HHMI 
2:45 pm Q&A panel
Moderator: Anna Greka, Chair of Focus on Rare Disease
Panelists: David Liu, Leslie Macari


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