Understanding the causes of hereditary hemorrhagic telangiectasia and its related vascular malformations
Molecular Pathogenesis of Hereditary Hemorrhagic Telangiectasia
This study is looking at a genetic condition called hereditary hemorrhagic telangiectasia (HHT) that causes unusual blood vessel growths in the brain, and it's using a mouse model to learn more about how these growths happen and find new ways to treat them.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-10778559 on NIH RePORTER |
What this research studies
This research investigates hereditary hemorrhagic telangiectasia (HHT), a genetic disorder that leads to abnormal blood vessel formations called arteriovenous malformations (AVMs). The focus is on brain AVMs, which can cause serious health issues. By creating a mouse model that mimics HHT, researchers aim to uncover the molecular mechanisms behind these malformations and identify potential therapeutic targets. This approach combines targeted studies with broad genomic analysis to enhance understanding and treatment options.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with hereditary hemorrhagic telangiectasia, particularly those experiencing complications from brain arteriovenous malformations.
Not a fit: Patients without hereditary hemorrhagic telangiectasia or those with sporadic AVMs unrelated to genetic factors may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved therapies for patients suffering from hereditary hemorrhagic telangiectasia and related vascular malformations.
How similar studies have performed: Previous research has shown promise in understanding vascular malformations through genetic and molecular approaches, indicating potential for success in this novel investigation.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Wang, Rong — University of California, San Francisco
- Study coordinator: Wang, Rong
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.