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Bedside to Bench: How the HHT Community Drives Research Initiatives (Recorded)

In March 2020, Cure HHT was 1 of 30 organizations selected to participate in the Chan Zuckerberg Initiative (also known as CZI) Rare is One Project. This ambitious project is lifting up the work that patient communities are doing to accelerate research and drive progress against rare diseases. The CZI Rare as One project is a two-year grant award that has provided Cure HHT funding, extensive training, and consultant services in an effort to develop a PATIENT-DRIVEN Research Network that will encourage a large, collaborative medical, scientific and patient community. The patient voice is the catalyst that drives basic science research and clinical outcomes. So how is the patient voice driving HHT research initiatives?

In January of this year, over 1,200 HHT patients, caregivers, clinicians and researchers responded to surveys about their thoughts on all things HHT. Now, the results are in! AND tonight, we will learn how Cure HHT is using the information provided from these survey findings to determine research funding priorities and build an HHT Research Roadmap that will help navigate our path to a cure!

HHT caregiver Cassi Friday, as well as Dr. Anthony Anzell who is a patient, researcher, and Cure HHT Board Member, walk you through the survey findings, introduce you to the exciting new Cure HHT Research Network (CHRN), and explain how the HHT patient community—that’s you—will be driving research initiatives through this very same network. Don’t miss this opportunity to learn about this powerful new approach to research!

Cure HHT Research Network (CHRN) is an ongoing collaboration of physicians, scientists and patients working to identify gaps in HHT research that is most important to the HHT patient and their families.

View the presentation slides


Key points from webinar:

  • Many new partnerships and programs have already been initiated in response to the Cure HHT Research Network (CHRN) survey results, including but not limited to:
    • Rare Genomes Project – in partnership with the Broad Institute, free full genome sequencing on families with suspected HHT who do not have a genetic diagnosis
    • International HHT Challenging Case Series – an interactive meeting of HHT physicians presenting and discussing challenging  HHT cases
    • Development of an HHT Patient Registry – to be launched in early 2022
  • The CHRN members include over 60 HHT physicians, scientists, patients and industry partners from around the world who will convene in Boston, MA in March 2022 to develop the roadmap for HHT research over the next 3-5 years
  • Survey analysis identified 7 topic areas as a guideline for discussion at the 1st Cure HHT Research Network convening in March 2022. Each topic represents a Work Stream of dedicated clinicians, scientists and patient leaders who will come together to build a Research Roadmap to drive HHT research in each area.
    1. Bleeding
    2. AVM progression
    3. Drug therapies and discovery
    4. Unresolved topics in lung AVMs
    5. Genetic considerations in HHT diagnosis
    6. Somatic mutations and genetic mechanisms of disease
    7. Unresolved topics in brain AVMs
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