Understanding genetic factors in epilepsy
Project-005
This study is exploring new DNA testing methods to help understand the genetic changes linked to epilepsy, making it easier for patients and their families to make informed decisions about their care.
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-10873157 on NIH RePORTER |
What this research studies
This research focuses on the rapid advancements in DNA sequencing technology to identify genetic variants associated with epilepsy. It aims to address the challenge of interpreting genetic variants of uncertain significance (VUS) that complicate clinical decision-making for patients and families. By collaborating across multiple institutions, the project will develop a comprehensive platform to predict the impact of these genetic variants on disease mechanisms. This approach will involve experts from various fields, including genetics, neuroscience, and pharmacology, to enhance our understanding of epilepsy.
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 do not have any genetic testing or those with non-genetic forms of epilepsy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved genetic counseling and personalized treatment options for patients with epilepsy.
How similar studies have performed: Previous research has shown success in using genetic sequencing to identify disease mechanisms in epilepsy, making this approach both relevant and promising.
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.