Investigating treatments for brain malformations in lissencephaly
Targeting synaptic dysfunction in lissencephaly
This study is looking at how changes in a specific gene related to lissencephaly affect brain development and function, with the goal of finding new treatments to help people with this condition manage their symptoms better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project ID | NIH-11073528 on NIH RePORTER |
What this research studies
This research focuses on lissencephaly, a severe brain malformation caused by mutations in the LIS1 gene, which can lead to drug-resistant epilepsy and intellectual disabilities. The team will study how these mutations affect neuronal migration and synaptic function using advanced techniques in both animal models and human-derived neurons. By exploring the potential of targeting glutamatergic synapses, the research aims to develop new therapies that could improve outcomes for patients with this condition. The approach combines cellular, molecular, and behavioral studies to better understand and potentially treat the underlying causes of lissencephaly.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with lissencephaly, particularly those experiencing severe neurological symptoms.
Not a fit: Patients with lissencephaly who do not have mutations in the LIS1 gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new targeted therapies that improve neurological function and quality of life for patients with lissencephaly.
How similar studies have performed: Previous research has shown promise in targeting synaptic dysfunction in related neurodevelopmental disorders, suggesting potential for success in this approach.
Where this research is happening
Irvine, United States
- University of California-Irvine — Irvine, United States (Active)
Researchers
- Principal investigator: Hunt, Robert F — University of California-Irvine
- Study coordinator: Hunt, Robert F
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.