Genetics and molecular causes of Vein of Galen malformations
Human genetics and molecular mechanisms of Vein of Galen aneurysmal malformation
Researchers are looking at genes and molecular signals in babies and children with Vein of Galen malformations to find what causes them.
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-11295276 on NIH RePORTER |
What this research studies
This project sequences DNA from affected infants and their families to find inherited or new genetic changes linked to Vein of Galen malformations. Lab tests will show how those gene changes alter protein function and blood-vessel development. The team will use functional genomics and biochemical assays to explain how specific variants like those in EphB4 and RASA1 can lead to the malformation. The aim is to identify more genetic causes and the molecular steps that could become targets for better diagnosis and treatment.
Who could benefit from this research
Good fit: Infants and children diagnosed with Vein of Galen malformation and their parents who can provide DNA samples and clinical information are ideal candidates.
Not a fit: People without VOGM or those with acquired or non-genetic vascular brain problems are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, the work could lead to genetic tests, earlier diagnosis, and new targets for therapies for infants with VOGM.
How similar studies have performed: Previous sequencing work identified likely causal variants in about 20% of VOGM cases and implicated genes such as EphB4 and RASA1, but most cases remain genetically unexplained.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Kahle, Kristopher T. — Massachusetts General Hospital
- Study coordinator: Kahle, Kristopher T.
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.