Rare Genomes Project

The Rare Genomes Project at the Broad Institute of MIT and Harvard is a non-profit, academic research institution that is utilizing genomic data in order to learn more about human health and disease. The Rare Genomes Project is a research study conducted through the Broad institute that is providing rare and undiagnosed families access to the latest advances in genome sequencing. Eligible families who consent to participate in the project provide a blood sample and discuss their experiences with their undiagnosed condition. The blood is used for DNA sequencing with the hopes of discovering a genetic variance causing the condition. The more families that participate, the more context researchers have about what variants may lead to what manifestations. The cumulative de-identified data from the project is made available to researchers worldwide to help as many people as possible reach a diagnosis and to advance research internationally.

Condition Awareness & Advocacy

Here is a list of conditions this partner raises awareness and advocacy for: 

Resources & Support

Connect With the Rare Genomes Project

Patient Worthy Posts on Undiagnosed Rare Disease