Understanding genetic risks for epilepsy using cell and animal models.
Modeling genetic risk for epilepsy using IPSC and animal models.
This study is looking into how a specific gene called CYFIP1 might influence brain cell activity and contribute to epilepsy, with the hope of finding new ways to help people manage their seizures.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-10889240 on NIH RePORTER |
What this research studies
This research investigates the genetic factors that contribute to epilepsy, focusing on the role of the CYFIP1 gene and its impact on brain cell function. By using induced pluripotent stem cells (iPSCs) and animal models, the study aims to uncover how genetic changes affect neuronal excitability and lead to seizures. The goal is to identify mechanisms that could inform the development of new treatments for epilepsy, which affects a significant portion of the population.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with genetic forms of epilepsy, particularly those with deletions in the 15q11.2 locus.
Not a fit: Patients with non-genetic forms of epilepsy or those without identifiable genetic mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new, disease-modifying treatments for epilepsy, improving the quality of life for patients.
How similar studies have performed: Previous research has shown promise in understanding genetic contributions to epilepsy, suggesting that this approach could yield valuable insights.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Habela, Christa — Johns Hopkins University
- Study coordinator: Habela, Christa
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.