HHT Research Update

5 Cure HHT Grants Fund Research Breakthroughs

Research is the answer to curing HHT, and it is Cure HHT’s highest priority. Our Young Researchers program attracts the best and brightest to HHT research early in their careers, resulting in continued dedication to the cause. Preventing this disease in the next generation means securing breakthroughs now.

Cure HHT was able to award $30,000 grants to the following young scholars with your support. Here is what they have been up to over the last year!


Hongyu Tian, PhD with Duke University

Goal: To determine endoglin's role in regulating the biology of vascular smooth muscled cells, the cells responsible for stabilization of blood vessels, during developmental angiogenesis and its relation to HHT.

Update: Using CRISPR technology, the study found important new information about the weakening of blood vessels during development.

Next Steps: The study will expand into mice models and the same steps will then be repeated using HHT cells.


Wan Zhu, PhD with the University of California, San Francisco

Goal: To treat brain AVMs in HHT patients through gene therapy using a noninvasive strategy injecting a viral vector into the localized site to bind VEGF and inhibit VEGF pathogenic effects, and to extend this treatment for AVMs in other organs.

Update: The findings of this study have been submitted for publication in the Journal of Stroke. Once the findings are publically presented, more details will be made available.

Next Steps: Testing will continue in mice models to develop a groundbreaking treatment.



Chadwick Davis, PhD with University of Utah and Recursion Pharmaceuticals

Goal: To discover a known drug to be repurposed to successfully treat HHT by characterizing ENG, ACVRL1 and SMAD4 deficient cell lines using RNAi and identifying known drugs that fully or partially ameliorate the HHT phenoprint.

Update: After analyzing 700 quantified features, a screenable phenotype associated with SMAD4 was identified.

Next Steps: Recursion will perform a drug screen of their entire compound library to search for additional targets in ENG and ACVRL1.


Simon Tual-Chalot, PhD with Newcastle University

Goal: To investigate how endothelial endoglin maintains adult vasculature to protect against high output heart failure in mice models as it is associated with HHT.

Update: The study provided new, important discoveries about how mechanism procedures affect heart failure in HHT.

Next Steps: Understanding the relationship between endoglin function and VEGF signaling will be a major focus moving forward.


Whitney Wooderchak-Donahue, PhD with University of Utah and ARUP Laboratories

Goal: To identify additional genetic modifiers in HHT to determine if the variability of HHT is caused by mutations in additional genes or genetic modifiers critical to vascular development.

Update: More than 160 samples have been collected from two families with ACVRL1 mutation spanning eight generations, including relatives as distant as 13th degree. The access to distant relatives’ RNA facilitates identification of genetic modifiers that may influence development of AVMs in certain family members.

Next Steps: Select patients will undergo transcriptome sequencing, and data will be compared against controls to identify genetic modifiers of AVMs in HHT. This data will be used to guide subsequent experiments in which RNA will be evaluated and analyzed to identify new genes and genetic modifiers.

*Please note a more detailed report will be made available once each researcher presents or publishes their findings. The good news is four of them will be presenting in June at the HHT International Scientific Conference!*

Ask the HHT Doctor


Dr. James Gossage is Director of the Pulmonary Vascular Disease program and the HHT Center of Excellence at Augusta University. He received his medical degree from Rush Medical College followed by a residency at Barnes Hospital and a fellowship in Pulmonary and Critical Care Medicine at Vanderbilt University. Dr. Gossage has taken care of HHT patients since 1995 and opened up his HHT Center of Excellence in 2003. In 2008 he was appointed Medical Director of the HHT Foundation, now known as Cure HHT. Dr. Gossage’s research and clinical interests include HHT, pulmonary hypertension, pulmonary embolism, and right heart catheterization.


Join Dr. James Gossage as he answers YOUR questions about HHT treatment and management. It's a one-on-one with your doctor in the comfort of your own home. Each question was submitted by a member of the Cure HHT community to ensure topics you care about are discussed.


Webinar Highlights

  • How are HHT and Pulmonary Hypertension connected?
  • What HHT symptoms can be treated with Avastin?
  • Can you have a lung AVM that doesn't appear in a CT Scan?
  • Should an asymptomatic family member be screened for HHT?
  • How close are we to a cure for HHT?



  • SHARE this information and webinar link with your family members affected by HHT

Cure HHT

Cure HHT is the cornerstone of the HHT community, advancing one common hope - to give those affected by HHT a chance for a normal life. Patient and physician education is the key to increasing HHT awareness and preventing unnecessary complications of this disease. This webinar series is just one of many ways we accomplish this mission.

We are grateful to the donors of Cure HHT for making this, and all webinars, possible.



Take Action: Protect Your Insurance

Take Steps to Block the American Health Care Act in the Senate!

The American Health Care Act (HR 1628) was passed in the House on May 4th, and will now be moving to the Senate for final consideration. This bill would eliminate insurance protections for those with pre-existing conditions - including genetic diseases like HHT.

Cure HHT is banning together with fellow advocacy groups to make sure this bill is voted NO in the Senate.

We need you to join the fight and tell your representatives to vote NO on the AHCA!

The need for action has never been more urgent!

Take Action - Contact Your Representatives

Call, email or write your representatives using this template letter as a guide.

How The AHCA Will Affect You

  • Individual states would be allowed to define “Essential Health Benefits,” meaning many of the basic services covered by the ACA -- such as prescription drugs, maternity care, mental health, emergency services, hospitalization – may no longer be covered.
  • Because annual and lifetime limits apply only to essential health benefits, insurers could put a cap on how much care one receives, but not on how much people owe. Treatment costs for major diseases are incredibly expensive and could easily bankrupt those in need.
  • Because treatments and medications for the HHT community can be very expensive, the elimination of essential health benefits essentially renders meaningless the ACA’s protections against insurance discrimination for those with “pre-existing medical conditions.”
  • Even if you get your health insurance through an employer, the new legislation could dramatically increase your costs while also reducing benefits.