Understanding how immune cells interact in capillary malformations caused by GNAQ mutations
Unraveling Immune Cell Interactions and Multicellular Dynamics in GNAQ-Driven Capillary Malformation
This study is looking at how immune cells and other types of cells work together in capillary malformations related to Sturge Weber Syndrome, focusing on a specific gene mutation, to better understand how these unusual blood vessels form and what that means for patients.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11033342 on NIH RePORTER |
What this research studies
This research investigates the interactions between immune cells and the dynamics of multiple cell types in capillary malformations, particularly those associated with Sturge Weber Syndrome. It focuses on the role of a specific mutation in the GNAQ gene, which is linked to these vascular abnormalities. By examining patient-derived endothelial cells and their surrounding environment, the study aims to uncover the mechanisms that lead to the formation of abnormal blood vessels. This could involve advanced imaging techniques and cellular assays to analyze the cellular composition and behavior in affected tissues.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with capillary malformations, particularly those with Sturge Weber Syndrome.
Not a fit: Patients without capillary malformations or those with other unrelated vascular conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapies for patients with capillary malformations and related conditions.
How similar studies have performed: Other research has shown promise in understanding vascular abnormalities through similar cellular and genetic approaches, indicating potential for success in this area.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Nasim, Sana — Boston Children's Hospital
- Study coordinator: Nasim, Sana
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.