UPDATE: PAUSE ON NEW ENROLLMENT - The Rare Genomes Project has temporarily paused acceptance of applications from new families through this website. We will continue working with currently enrolled families while we secure additional funding for this study. Please see our News page for more information.
If you or your family member has a rare and genetically undiagnosed condition, you may be eligible to join a patient-driven research study aimed at discovering the genes underlaying your family's rare disease.
The Rare Genomes project (RGP) at the Broad Institute of MIT and Harvard is a patient-driven research study led by genomics experts and clinicians who believe that the latest Advances in genomic sequencing are changing medicine and should be accessible to families with rare and undiagnosed conditions.
Aid Discovery
More than half of the genes underlying rare diseases remain undiscovered.
By participating in the Rare Genomes Project, you can help researchers identify the genes that cause rare disease. If you are eligible for the study, we will use genomic sequencing to look for the cause of the rare, undiagnosed disease in your family.
Find Answers
Your family's diagnosis belongs to you.
If we find a genetic change that may be the cause of the rare disease in your family, we will confirm it in a clinical lab and work with your local doctor to return the results to you.
Get Involved
Join the research community.
The Rare Genomes Project is supported by The Broad Institute of MIT and Harvard in partnership with patients and rare disease advocates. We believe that families should be at the center of research involving their diseases, and encourage the involvement of families and the advocacy groups that support them throughout the study.
Share Data
Data sharing is crucial for improving diagnosis rates of rare disease worldwide.
The genetic information generated in this project will be shared with other scientists to ensure it has the widest possible impact. Your genetic data can help other families and improve scientists' understanding of rare disease. Learn more about our data sharing policies here.
How you can participate
Tell us your story
Click Apply to see a broad overview of the study and learn how you can start an application. The information will be reviewed by our study team, and eligible families will be invited to participate. We will arrange a time to have a detailed discussion about the study and send a consent form.
Submit a sample
Once enrolled, we will mail a pre-paid sample collection kit directly to you and your family. We will also ask you more about medical history and ask for copies of medical records including any prior genetic test results.
Discover
Through DNA sequencing, we may discover the genetic cause of the rare disease in your family and will work with your and your doctor to return important results to you. We will also share de-identified data broadly with the scientific community to empower discoveries in rare disease research.
"This research project really understands the importance of bring patients in as partners and engaging patients in a novel way. It's critical to do that because patients are often the ones that start driving the research."
-Matt Might, Caregiver and Director, Hugh Kaul Precision Medicine Institute
Our advocacy partners
You can be the driving force behind rare disease research.
Many of the patient and family portraits on our website were photographed by Season Atwater, founder of Aware of Angels. Thank you, Season, for being an amazing advocate for the rare disease community, and thank you to all of the families who so kindly shared their photos with us.