Understanding how mutations in brain cells contribute to brain diseases.
Official title: Origins of Brain Somatic Mosaicism in Developmental Brain Disease
Funded at University of California, San Diego · NIH-11166304 · Data updated 2026-11-12
This study is looking at how tiny genetic changes in different brain cells might contribute to conditions like focal cortical dysplasia, which can cause severe epilepsy and other brain-related issues, to help us understand how these changes affect brain health and function.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | August 10, 2021 |
| Project end | May 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $303,328 |
| NIH project number | 5R01MH124890-05 |
| Project ID | NIH-11166304 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with focal cortical dysplasia or related brain disorders, particularly those experiencing intractable epilepsy.
✕Less likely to help
Patients with brain diseases not related to somatic mosaicism or those who do not have focal cortical dysplasia may not benefit from this research.
What this research studies
This research investigates brain somatic mosaicism (BSM), which is the presence of genetic mutations in different cells of the brain that can occur from early development through adulthood. The study aims to understand how these mutations affect brain diseases, particularly focusing on conditions like focal cortical dysplasia (FCD), which can lead to severe epilepsy and neuropsychiatric issues. By analyzing brain tissue from patients, researchers hope to uncover the mechanisms behind these mutations and their impact on brain function. This could involve examining the patterns of mutations and how they relate to the development and behavior of brain cells.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the causes of brain diseases and potentially improve treatment options for affected patients.
How similar studies have gone: Previous research has shown promising results in understanding brain somatic mosaicism, but this specific approach to studying its role in focal cortical dysplasia is relatively novel.
Where this research is happening
-
University of California, San Diego
La Jolla, United States Active
Researchers
- Principal investigator: Gleeson, Joseph G — University of California, San Diego
- Study coordinator: Gleeson, Joseph G
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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.