Understanding how certain proteins affect blood vessel malformations in the brain
Investigating the intracellular vesicle-mediated mechanism contributing to cerebral cavernous malformation
This study is looking at how a specific gene called CCM3 affects blood vessels in the brain, which can help us understand more about cerebral cavernous malformations (CCM) and find new ways to treat patients who have inherited this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11037955 on NIH RePORTER |
What this research studies
This research investigates the mechanisms behind cerebral cavernous malformations (CCM), which are abnormal blood vessel formations in the brain that can lead to serious health issues like strokes and seizures. The study focuses on a specific gene, CCM3, and its role in maintaining the integrity of blood-brain barrier (BBB) function. By using advanced imaging techniques in mouse models, researchers aim to visualize how the loss of CCM3 affects blood vessel behavior and to explore potential therapeutic approaches. Patients with inherited mutations in CCM genes may find this research particularly relevant as it seeks to uncover the underlying causes of their condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults with inherited mutations in the CCM genes, particularly those with CCM3 mutations.
Not a fit: Patients without genetic mutations related to cerebral cavernous malformations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve outcomes for patients with cerebral cavernous malformations.
How similar studies have performed: Previous research has shown promising results in understanding the role of CCM proteins in vascular health, suggesting that this approach may yield valuable insights.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Zhou, Jenny Huanjiao — Yale University
- Study coordinator: Zhou, Jenny Huanjiao
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.