When and where the Sturge‑Weber mutation starts during fetal development
Developmental Origins of the Sturge Weber Syndrome Somatic Mutation
Researchers are testing how a specific GNAQ gene change in fetal cells leads to Sturge‑Weber syndrome to help children with facial birthmarks, brain blood vessel problems, and glaucoma.
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 ID | NIH-11266216 on NIH RePORTER |
What this research studies
If I or my child has Sturge‑Weber, this project aims to find which fetal cell types and exact developmental times cause the disease by using genetically engineered mice that carry the same GNAQ mutation seen in patients. The team will activate the mutation in different cell types and at different stages to see when brain and eye blood vessel malformations form. They will use imaging and tissue analysis to compare outcomes and refine a mouse model that more closely matches the human condition. A faithful model could be used later to test treatments and understand why some patients develop seizures, stroke‑like episodes, or glaucoma.
Who could benefit from this research
Good fit: People with Sturge‑Weber syndrome—especially infants and children with facial port‑wine birthmarks and signs of brain or eye involvement—would be the most relevant patient group for future related studies.
Not a fit: People without Sturge‑Weber or with unrelated vascular conditions are unlikely to receive direct benefit from this animal‑model research.
Why it matters
Potential benefit: If successful, the work could produce a faithful animal model that speeds development of therapies to prevent or treat seizures, stroke‑like episodes, and glaucoma in people with Sturge‑Weber.
How similar studies have performed: Researchers previously discovered the same GNAQ somatic mutation in patients and made a mouse that developed vascular malformations but was embryonic lethal, so this project builds on that work to create a more faithful and survivable model.
Where this research is happening
Durham, United States
- 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 below.