Investigating the role of a gene in the development of Moyamoya disease
Role of SETD5 in Moyamoya Disease Pathogenesis
This study is looking at how a specific gene called SETD5 affects Moyamoya disease, which causes blood vessels in the brain to narrow and can lead to strokes, especially in kids, with the goal of finding new ways to help improve treatment for patients.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas Hlth Sci Ctr Houston NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-10724796 on NIH RePORTER |
What this research studies
This research focuses on understanding how the gene SETD5 contributes to Moyamoya disease, a condition that causes narrowing and blockage of the internal carotid arteries, leading to strokes, particularly in children. The study aims to explore the mechanisms by which smooth muscle cells (SMCs) behave abnormally in this disease, specifically looking at their migration and proliferation. By examining genetic variants and their effects on cell behavior, the research seeks to identify potential therapeutic strategies that could improve patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Moyamoya disease, particularly children who are at risk for stroke.
Not a fit: Patients with Moyamoya disease caused by factors unrelated to the genetic mechanisms being studied may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that prevent or mitigate strokes in patients with Moyamoya disease.
How similar studies have performed: Previous research has shown promising results in understanding genetic contributions to Moyamoya disease, suggesting that this approach may yield valuable insights.
Where this research is happening
Houston, United States
- University of Texas Hlth Sci Ctr Houston — Houston, United States (Active)
Researchers
- Principal investigator: Kwartler, Callie S — University of Texas Hlth Sci Ctr Houston
- Study coordinator: Kwartler, Callie S
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.