Support Rare Disease Research Today
Rare diseases are not rare. While each individual condition may affect a small number of people, together they impact more than 300 million people worldwide. In the United States alone, an estimated 30 million Americans live with a rare disease.
The Broad Center for Mendelian Genomics is dedicated to improving diagnosis for individuals and families affected by rare diseases. We do this by discovering the genetic causes of these conditions and translating our work into clinical practice through community-centered projects that emphasize collaboration, data sharing, and open science. Our work takes many forms, including: