What the HHT?

A blog for the HHT community

Surveys

Become a Tissue Donor

Duke University, through a separate BVMC project, is collecting vascular malformations (VMs) associated with HHT to search for somatic mutations, possibly occurring in different genes than the ones already identified. All HHT patients undergoing surgery to remove an AVM from any organ (i.e., liver, lung, brain, skin, etc.), are encouraged to consider donating  tissue. You do not need to have a brain AVM to participate in this study project.

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FREE Genetic Testing for 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 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…

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Suffer from brain AVMs? You can help further HHT research today

Cure HHT, along with HHT Centers of Excellence across North America, are now actively recruiting HHT patients worldwide to participate in the NIH funded study, entitled “Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (HHT)”. The goal of this research is to determine what genetic and clinical factors signal high risk for hemorrhage from brain AVMs.…

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NARRATE Study: Rare Disease Survey

The Children’s Hospital of Philadelphia is conducting a research study aimed at identifying needs among communities affected by rare disease with hopes of bridging existing communication gaps between rare disease patients, families, and physicians. Adult parents and patients living with rare diseases are invited to participate in an online survey.

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