Improving synapse function in lissencephaly
Targeting synaptic dysfunction in lissencephaly
This project tries ways to change how brain cells connect to help people with LIS1-related lissencephaly who often have seizures and developmental delays.
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-11326742 on NIH RePORTER |
What this research studies
Researchers will work with mice that carry the LIS1 mutation and with neurons grown from patient cells to study synapse problems in lissencephaly. They will use cellular and molecular lab tests, recordings of electrical activity from brain cells, and behavior tests in mice to see if modifying synaptic adhesion molecules reduces overactive glutamate signaling. Human-derived patient neurons will be used to confirm that findings in mice apply to human cells. These preclinical steps aim to provide the evidence needed to move toward targeted treatments that change synapse function.
Who could benefit from this research
Good fit: People (or parents of children) with genetically confirmed LIS1-related lissencephaly who are willing to donate cells or consider participation in future early-phase clinical work.
Not a fit: Because this is preclinical laboratory research, participants are unlikely to receive direct personal benefit now, and people with lissencephaly not caused by LIS1 mutations may not benefit from these findings.
Why it matters
Potential benefit: If successful, this work could point to a new treatment that reduces seizures and improves development for people with LIS1-related lissencephaly.
How similar studies have performed: Related approaches have shown promise in animal models but have not yet produced proven treatments for people with lissencephaly.
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.