Patchy (mosaic) genetic changes in focal epilepsy
Human Epilepsy Genetics - Mosaic Mutations in Focal Epilepsy
This project looks for mosaic (patchy) genetic mutations in brain tissue from people with mesial temporal lobe epilepsy to better understand causes and help guide future treatment choices.
Quick facts
| Grant type | R37 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11238895 on NIH RePORTER |
What this research studies
I would be asked whether genetic changes that occur in only some brain cells help cause focal mesial temporal lobe epilepsy (mTLE). Researchers sequence DNA from brain tissue removed during epilepsy surgery and compare it to blood to find mutations that are only in the brain. They focus on genes in the RAS signaling pathway but will look more broadly to find other genetic regulators. The team will analyze many more resected samples to confirm earlier findings and to see if specific mutations relate to outcomes and treatment options.
Who could benefit from this research
Good fit: Ideal candidates are adolescents and adults with medically refractory mesial temporal lobe epilepsy who are undergoing or have had brain tissue resected for seizure control.
Not a fit: People with generalized epilepsy, those whose seizures are well controlled by medication, or individuals not having brain surgery are unlikely to receive direct benefit from participation.
Why it matters
Potential benefit: If successful, this work could explain why some focal epilepsies are resistant to drugs and point toward more targeted treatments or better surgical decisions.
How similar studies have performed: Earlier small studies of resected epilepsy tissue have found somatic RAS-pathway mutations in some cases, so these results extend promising but still early findings.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Walsh, Christopher a. — Boston Children's Hospital
- Study coordinator: Walsh, Christopher a.
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.