Mapping hidden brain cell changes in drug-resistant epilepsy
Deciphering brain mosaicism in drug-resistant epilepsy at cellular resolution
This project looks for tiny genetic changes in brain cells of children with drug-resistant epilepsy caused by brain malformations to help guide better diagnosis and treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project ID | NIH-11263699 on NIH RePORTER |
What this research studies
If you join, doctors will analyze tissue from epilepsy surgery using very sensitive genetic methods to find rare mutations present only in some brain cells. They will use single-cell sequencing to identify which kinds of brain cells carry those mutations and how the mutations change gene activity. The team will then test those mutations in lab cell models that match the affected cell types to see how they affect cell function. This approach aims to link specific cell-level changes to seizure causes so future care can be more precise.
Who could benefit from this research
Good fit: Children and young people with focal malformations of cortical development and drug-resistant seizures who are being evaluated for or undergoing epilepsy surgery are the most likely candidates.
Not a fit: People with generalized epilepsy, seizures not caused by cortical malformations, or those who are not surgical candidates are less likely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could help diagnose hidden genetic causes of drug-resistant epilepsy and point toward more targeted treatments for affected patients.
How similar studies have performed: Previous studies have found somatic mutations in malformations of cortical development and single-cell methods are promising, but applying them to map cell-type-specific effects and perform functional validation is a relatively new approach.
Where this research is happening
Columbus, United States
- Research Inst Nationwide Children's Hosp — Columbus, United States (Active)
Researchers
- Principal investigator: Bedrosian, Tracy Ann — Research Inst Nationwide Children's Hosp
- Study coordinator: Bedrosian, Tracy Ann
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.