Predicting genetic variants related to epilepsy
Epilepsy Multiplatform Variant Prediction (EpiMVP)
This study is looking at how genes might affect epilepsy to help doctors better understand the condition and find the best treatments for patients like you.
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-10873138 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic factors that contribute to epilepsy by utilizing advanced DNA sequencing technologies. It aims to address the challenge of interpreting genetic variants of uncertain significance that arise from clinical testing. By collaborating across multiple institutions, the project will develop a comprehensive platform that integrates expertise from various fields, including genetics and neuroscience, to enhance the understanding of epilepsy mechanisms and improve patient care. Patients with epilepsy may benefit from more accurate genetic insights that can inform treatment options.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with early-onset, familial, or refractory epilepsy who have undergone genetic testing.
Not a fit: Patients with epilepsy who have already been thoroughly characterized genetically and do not have variants of uncertain significance may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved genetic understanding and personalized treatment strategies for patients with epilepsy.
How similar studies have performed: Previous research has shown success in utilizing genetic sequencing to identify disease mechanisms in epilepsy, making this approach both promising and relevant.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Isom, Lori L. — University of Michigan at Ann Arbor
- Study coordinator: Isom, Lori L.
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.