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.
Participation is completely remote and FREE! Just visit https://raregenomes.org/how-it-works or call 617-714-7395 to learn more or to get started!