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Research at the HHT Center of Excellence of UPMC and the University of Pittsburgh

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Zebrafish Model of HHT

Dr. Beth Roman's research lab is using a zebrafish model of HHT to find out how arteriovenous malformations (AVMs) form.

Her zebrafish model has a mutation in the ACVRL1 gene, the gene found in people with HHT2. The Zebrafish embryos that carry two mutated copies of this gene form AVMs during embryonic development.

The ACVRL1 gene encodes ALK1 protein.

Dr. Roman’s work focuses on:

  • Understanding the function of ALK1 protein within the cells that line blood vessels.
  • Defining the errors that these cells make that ultimately give rise to AVMs.

Learn more about HHT research at the University of Pittsburgh's HHT website.

Clinical Research Efforts

For the latest information on HHT clinical trials, please visit ClinicalTrials.gov.

Contact Us

To make an appointment or refer a patient, call the HHT Center of Excellence at 412-648-6161,
or email us at PittHHT@upmc.edu.

Please let us know if the patient is under 18 so we can schedule care at UPMC Children's Hospital of Pittsburgh.

Additional Resources

Opens the Cure HHT websiteVascular Medicine Institute at the University of PittsburghUniversity of Pittsburgh Human Genetics Public Health Program