Understanding how gene mutations cause epilepsy
Proteins to Cell Systems
This study is looking at how certain gene changes might cause epilepsy, using advanced technology to better understand these changes, so we can find better ways to diagnose and treat people with epilepsy.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-10873144 on NIH RePORTER |
What this research studies
This research focuses on the genetic basis of epilepsy, particularly how specific gene mutations contribute to the condition. Using advanced techniques like next-generation DNA sequencing, the project aims to identify and analyze genetic variants that are linked to epilepsy but are currently difficult to interpret. The research will utilize various models, including human stem cells and organoids, to create a testing pipeline that can assess the effects of these genetic variants. By refining the understanding of these mutations, the project seeks to improve diagnostic and therapeutic strategies for epilepsy patients.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with epilepsy, particularly those with genetic variants of uncertain significance.
Not a fit: Patients without epilepsy or those whose condition is not linked to genetic factors may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and targeted treatments for patients with epilepsy caused by genetic mutations.
How similar studies have performed: Previous research has shown promise in using genetic analysis and cellular models to understand epilepsy, indicating that this approach could yield valuable insights.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Parent, Jack M — University of Michigan at Ann Arbor
- Study coordinator: Parent, Jack M
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.