The Rare Genomes Project: Research-Based Genomic Sequencing for Undiagnosed Families – May 31, 2022

About:

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. They use genomic sequencing to search for the cause of rare disease in these families and hope to accelerate the rate of rare disease diagnosis in the 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. The Rare Genomes Project aims to turn genomic data into clinically meaningful answers for families participating in the project as they advance scientific understanding of rare genetic disorders.

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.