RGP Mission

The Rare Genomes Project at the Broad Institute of MIT and Harvard is a team of researchers, physicians, software developers, genetic counselors, and study coordinators who believe that the latest advances in genomic sequencing are changing medicine and should be more broadly available to families with rare and undiagnosed conditions.

Our Story

The Rare Genomes Project was developed to provide access to genomic research to patients across the United States who are living with undiagnosed, suspected genetic conditions, and to engage with them as partners in the research process.

Improving the understanding of rare genetic conditions requires combining genomic research with the experiences of patients and families, and sharing this data with the research community. We hope to turn genomic data into clinically meaningful answers for families participating in the project as we advance scientific understanding of rare genetic disorders.

Our Team

Broad Institute

The Broad Institute of MIT and Harvard is a non-profit academic research institution in Cambridge, Massachusetts and is focused on using genomic data to better understand human health and disease. The Broad Institute conducts genomic sequencing and research for many projects, and has sequenced over 200,000 human genomes and 500,000 human exomes to date. One of the projects, led by Drs. Heidi Rehm and Daniel MacArthur in collaboration with other researchers, has led to the diagnosis of over 2,000 families with rare disease through genomic sequencing. In 2017, Drs. Rehm and MacArthur created the Rare Genomes Project to bring these resources directly to families.