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:
Rare Genomes Project - We work with more than 1,000 individual families to find genetic diagnoses and identify new molecular causes of disease.
gnomAD - We created—and continue to scale—the world’s most widely used open database of genetic variation, providing large-scale data on millions of variants across populations. This resource provides insights into gene function and disease risk and is used by virtually all clinical laboratories worldwide.
CinGen - We curate a publicly available resource that defines the clinical relevance of genes and variants to expand genomic knowledge for both research and clinical use.
Our research would not be possible without funding from grants and philanthropy.
Every gift, regardless of size, helps us in our mission. We appreciate your support!
Support Rare Disease Research Today
Please direct your donation to the “Translational Genomics Group.”
Donations will support the above projects at large and will not influence an individual’s eligibility to participate in these projects.
All donations are tax-deductible.