Investigating genetic causes of vein of Galen aneurysmal malformations
Human Genetics and Molecular Mechanisms of Vein of Galen Aneurysmal Malformation
This study is looking into the genes that might cause vein of Galen aneurysmal malformations (VOGMs), which are serious brain blood vessel issues, to help doctors find better ways to diagnose and treat patients with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10854853 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic factors and molecular mechanisms behind vein of Galen aneurysmal malformations (VOGMs), which are severe congenital brain vascular anomalies. By utilizing advanced techniques like whole exome sequencing, the study aims to identify specific gene mutations that contribute to these conditions. The goal is to uncover the underlying biology of VOGMs to improve diagnostic methods and develop targeted therapies for affected patients. This research could lead to significant advancements in how these malformations are understood and treated.
Who could benefit from this research
Good fit: Ideal candidates for this research include children diagnosed with vein of Galen aneurysmal malformations or related congenital cerebrovascular anomalies.
Not a fit: Patients with other types of vascular malformations not related to vein of Galen aneurysmal malformations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and targeted therapies for patients with vein of Galen aneurysmal malformations.
How similar studies have performed: Previous research has successfully identified genetic mutations associated with similar vascular malformations, indicating a promising avenue for this study.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Kahle, Kristopher — Massachusetts General Hospital
- Study coordinator: Kahle, Kristopher
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.