Understanding blood vessel disorders caused by GNAQ mutations
Official title: Pathogenesis of Vascular Anomalies with GNAQ mutations
Funded at Cincinnati Childrens Hosp Med Ctr · NIH-11062365 · Data updated 2026-11-12
This study is looking at how changes in a specific gene can cause serious blood vessel problems that might lead to disfigurement or life-threatening issues, and it aims to find new treatments that could help people with these conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project start | April 1, 2024 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $593,585 |
| NIH project number | 5R01HL167700-02 |
| Project ID | NIH-11062365 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are patients with vascular anomalies linked to GNAQ mutations, particularly those experiencing severe symptoms or complications.
✕Less likely to help
Patients without GNAQ mutations or those with unrelated vascular disorders may not benefit from this research.
What this research studies
This research investigates the genetic mutations in the GNAQ gene that lead to vascular anomalies, which can cause severe disfigurement and life-threatening conditions like Kasabach-Merritt Phenomenon. By creating a transgenic mouse model that mimics these conditions, the researchers aim to explore the underlying cellular and molecular mechanisms of these disorders. They will also test potential therapies, such as the MEK/ERK inhibitor Trametinib, to evaluate their effectiveness in treating affected patients. The study will utilize innovative models to advance understanding and treatment options for these complex vascular diseases.
Why it matters
Potential benefit: If successful, this research could lead to targeted therapies that significantly improve the quality of life and health outcomes for patients with GNAQ-related vascular anomalies.
How similar studies have gone: While this specific approach is novel, similar research has shown promise in targeting genetic mutations to develop effective therapies for vascular disorders.
Where this research is happening
-
Cincinnati Childrens Hosp Med Ctr
Cincinnati, United States Active
Researchers
- Principal investigator: Boscolo, Elisa — Cincinnati Childrens Hosp Med Ctr
- Study coordinator: Boscolo, Elisa
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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.