Understanding genetic factors in familial epilepsy
Polygenic risk in familial epilepsy
['FUNDING_OTHER'] · UNIVERSITY OF PENNSYLVANIA · NIH-11070332
This study is looking at how different genes might work together to cause epilepsy that runs in families, and it's for families affected by epilepsy who want to understand more about their condition and how it might be passed down.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11070332 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic basis of familial epilepsy, which often runs in families but lacks identifiable single gene mutations. The project will analyze the combined effects of multiple genetic variants across the genome in over 1,000 families affected by epilepsy. By applying polygenic risk analysis, the research aims to uncover new biological pathways that contribute to the condition and assess how these genetic risks are passed down through families. The ultimate goal is to develop clinically useful tools that can improve the care and treatment of individuals with epilepsy.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a family history of epilepsy, particularly those from families with multiple affected members.
Not a fit: Patients with epilepsy who do not have a familial history or those with epilepsy caused by identifiable single gene mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of familial epilepsy, potentially improving treatment options for patients.
How similar studies have performed: Other research has shown promise in understanding genetic contributions to epilepsy, but this approach focusing on familial epilepsy through polygenic risk analysis is relatively novel.
Where this research is happening
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ELLIS, COLIN — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: ELLIS, COLIN
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.