Investigating the role of a gene in the development of Moyamoya disease
Official title: Role of SETD5 in Moyamoya Disease Pathogenesis
Funded at University of Texas Hlth Sci Ctr Houston · NIH-10724796 · Data updated 2026-11-12
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 start | August 15, 2023 |
| Project end | July 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $156,000 |
| NIH project number | 1R03TR004580-01 |
| Project ID | NIH-10724796 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Moyamoya disease, particularly children who are at risk for stroke.
✕Less likely to help
Patients with Moyamoya disease caused by factors unrelated to the genetic mechanisms being studied may not benefit from this research.
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.
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 gone: 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
-
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
Related research
Other NIH-funded projects on the same topics.
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RNF213 and Moyamoya Disease in Children
A study in young children will explore how the RNF213 gene affects blood vessel cells and contributes to Moyamoya disease, with the aim of finding new ways to prevent or treat strokes.
-
Personalized vascular and metabolic signs after revascularization in moyamoya disease
A multi-site study will look at brain imaging and blood/CSF signals in adults with moyamoya disease to understand which biomarkers relate to stroke risk and how patients respond to treatment.
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Understanding how blood flow and brain health relate to treatment in moyamoya disease
This study is looking at how blood flow and certain markers can help us understand the risk of strokes in people with moyamoya disease, so we can better identify who might benefit from surgery to improve their condition.
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Risk prediction for stroke and cognitive decline in Moyamoya disease and Moyamoya syndrome
A large multicenter study tests whether combining clinical data, imaging, lab and genetic information can predict who will have stroke or cognitive decline among people with Moyamoya.
-
5T MRI and Metabolomics to Predict Hemorrhage Risk in Moyamoya Disease
This study tests whether advanced 5T MRI imaging and metabolomics can help predict which moyamoya patients are at higher risk of intracranial hemorrhage.
-
XR-assisted CT-guided localization for EC-IC bypass in Moyamoya and chronic cerebral ischemia
The study tests whether a metaverse-based surgical simulation with extended reality helps localize vessels during EC-IC bypass for moyamoya disease or chronic cerebral ischemia.
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.