Understanding the genetic causes of Sturge Weber Syndrome
Official title: Developmental Origins of the Sturge Weber Syndrome Somatic Mutation
Funded at Duke University · NIH-11053726 · Data updated 2026-11-12
This study is looking into the genetic changes that cause Sturge Weber Syndrome, a condition that affects the skin and brain, to help us understand it better and find new ways to treat it, especially for those dealing with complications like glaucoma and epilepsy.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project start | February 1, 2025 |
| Project end | January 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $201,875 |
| NIH project number | 1R21HD112673-01A1 |
| Project ID | NIH-11053726 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants and young children diagnosed with Sturge Weber Syndrome or those showing symptoms related to the condition.
✕Less likely to help
Patients with other unrelated neurological or vascular conditions may not benefit from this research.
What this research studies
This research investigates the genetic mutations responsible for Sturge Weber Syndrome (SWS), a condition that affects the skin and brain due to abnormal blood vessel development. The team aims to identify the specific fetal cell types and developmental time frames during which these mutations occur, which could lead to better understanding and treatment options. By developing a more accurate animal model, researchers hope to explore the mechanisms of SWS and its associated complications, such as glaucoma and epilepsy. This work is crucial for advancing knowledge about this rare syndrome and improving patient outcomes.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment strategies for children affected by Sturge Weber Syndrome.
How similar studies have gone: Previous research has successfully identified genetic mutations in other conditions, suggesting that this approach may yield valuable insights for Sturge Weber Syndrome as well.
Where this research is happening
-
Duke University
Durham, United States Active
Researchers
- Principal investigator: Marchuk, Douglas a. — Duke University
- Study coordinator: Marchuk, Douglas a.
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.