Investigating treatments for brain malformations in lissencephaly
Official title: Targeting synaptic dysfunction in lissencephaly
Funded at University of California-Irvine · NIH-11073528 · Data updated 2026-11-12
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 start | May 1, 2025 |
| Project end | April 30, 2030 |
| Funding year | 2025 |
| Award (this year) | $488,507 |
| NIH project number | 1R01NS137630-01A1 |
| Project ID | NIH-11073528 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with lissencephaly, particularly those experiencing severe neurological symptoms.
✕Less likely to help
Patients with lissencephaly who do not have mutations in the LIS1 gene may not benefit from this research.
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.
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 gone: 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
-
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.