HHT Research: It’s in the Genes

Whitney Wooderchak-Donahue 1

Young Researcher Works to Discover New HHT Genes

Whitney Wooderchak-Donahue, PhD, said she couldn’t help but jump around her office when she received the $30,000 Cure HHT Young Research Scholar Award. Having studied the molecular genetics of HHT for more than 10 years, it was a dream come true to receive a seed grant to further her research. Almost a year later, Whitney’s results are awaiting publication and she’s thrilled to use those findings to leverage federal funding to expand the project.

 

Q: What motivated you to apply for the Cure HHT Young Research Program?

A: I really want to find an answer for families in which we don’t know why they have HHT. Research is like a roller coaster - One day you think you’ve found a new variant that causes HHT and the next you find that same variant in a control sample. We will get there though. I’m determined!

Q: What is the goal of your Cure HHT project?

A: To discover additional HHT genes and genetic modifiers using the latest, most advanced genetic technologies. We hypothesize that the clinical variability observed in HHT patients, like multiple AVMs and severe nosebleeds versus no AVMs and few nosebleeds in individuals from the same family, is caused by mutations in additional genes and genetic modifiers critical for vascular development.

Q: What are your next steps?

A: In one year, we have collected about 100 cases with a known ENG or ACVRL1 mutation, many of whom are from two large extended Utah pedigrees with an ACVRL1 mutation. We are currently analyzing the results from our transcriptome experiments and plan to use data from this small study to apply for larger federally funded grants later this year.

Q: Will you continue to focus on HHT moving forward?

A: My future work will focus on understanding the molecular genetics of HHT and other vascular malformation syndromes to improve the understanding and molecular diagnostics of these disorders so more families can have an answer. We all have one goal in mind - to help patients with HHT.