No-Cost Genetic Testing for HHT & Other Rare Diseases

The Rare Genomes Project is a patient-driven research project through the Broad Institute that performs full genome sequencing on families with suspected singe gene disorders 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 currently paused for enrollment.

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