The Rare Genomes Project

The Rare Genomes Project is a patient-driven research project through the Broad Institute that performs full genome sequencing on families with suspected rare disease who do not have a genetic diagnosis. The goal of their project is two-fold: (1) provide access to testing for families that are genetically undiagnosed and (2) discover previously un-identified gene mutations that may lead to disease.

Families who could benefit from participation are those who fit either of the two following criteria:

  • Have not had genetic testing done and do not have access to genetic testing.
  • Have had genetic testing done and the results were inconclusive.

Note, a clinical diagnosis of HHT is not required to participate nor does it exclude someone from participation. View flyer. However, if you have an HHT clinical diagnosis, your physician can refer you to the Rare Genomes Project for a genetic diagnosis by submitting the clinician referral form or downloading the RGP referral form.

Participation is completely remote and FREE! Call 617-714-7395 or visit the project website to learn more or to get started!