Understanding how immune cells interact in capillary malformations caused by GNAQ mutations
Official title: Unraveling Immune Cell Interactions and Multicellular Dynamics in GNAQ-Driven Capillary Malformation
Funded at Boston Children's Hospital · NIH-11033342 · Data updated 2026-11-12
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 start | January 2, 2025 |
| Project end | December 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $127,305 |
| NIH project number | 1K99HL177326-01 |
| Project ID | NIH-11033342 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with capillary malformations, particularly those with Sturge Weber Syndrome.
✕Less likely to help
Patients without capillary malformations or those with other unrelated vascular conditions may not benefit from this research.
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.
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 gone: 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 Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Nasim, Sana — Boston Children's Hospital
- Study coordinator: Nasim, Sana
Related research
Other NIH-funded projects on the same topics.
-
Targeting the brain’s fluid system to treat post-hemorrhagic hydrocephalus
This grant explores a new approach to treating post-hemorrhagic hydrocephalus by studying how the brain’s fluid system and immune cells manage CSF after a brain bleed.
-
National Spina Bifida Patient Registry at Boston Children’s Hospital
A patient-focused registry project at Boston Children’s Hospital will collect and study information from people with spina bifida to improve care and outcomes.
-
Severe Chronic Neutropenia Registry for Patients
A patient-facing registry that tracks severe chronic low neutrophil counts to improve understanding and care for people with this condition.
-
Severe Chronic Neutropenia Registry to Improve Care
A patient-focused registry gathers information from adults with severe chronic neutropenia to better understand infections, treatments, and outcomes over time.
-
Severe Chronic Neutropenia Registry: Finding Better Ways to Prevent Infections
A patient-focused registry at a leading hospital helps people with severe chronic neutropenia learn how the condition progresses and how treatments work over time.
-
Exploring epilepsy genes in zebrafish to understand human brain seizures
A study in zebrafish will model human epilepsy genes to help explain how certain brain mutations contribute to seizures.
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.