How SYNGAP1 affects early brain development in autism and related disorders
Non-synaptic function of Syngap1 in human neurodevelopmental disorders
Researchers are looking at how changes in the SYNGAP1 gene alter early brain cell behavior in people with autism, schizophrenia, or intellectual disability.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Southern California NIH-funded |
| Lab location | 1 site (Los Angeles, UNITED STATES) |
| Project ID | NIH-11292388 on NIH RePORTER |
What this research studies
The team grows miniature human cortical brain tissue from stem cells and introduces changes in SYNGAP1 that have been found in people with neurodevelopmental conditions. They focus on early neural progenitor cells, where SYNGAP1 appears to shape how and when these cells divide and turn into neurons. The lab also compares findings in mouse embryos to see which effects are conserved across species. By linking specific mutations and protein domains to cellular changes, they hope to explain how SYNGAP1 changes lead to altered brain development.
Who could benefit from this research
Good fit: People known to carry SYNGAP1 genetic variants, or families affected by SYNGAP1-related autism, schizophrenia, or intellectual disability who can provide genetic or cell samples, are most relevant to this work.
Not a fit: People whose conditions are not linked to SYNGAP1 mutations or those seeking immediate clinical therapies are unlikely to directly benefit from this basic lab-focused research.
Why it matters
Potential benefit: If successful, this work could reveal how SYNGAP1 mutations disrupt early brain development and point to targets or time-windows for future treatments or diagnostics.
How similar studies have performed: Previous animal and organoid research has linked SYNGAP1 to synaptic problems and neurodevelopmental outcomes, but the emphasis on early, non-synaptic roles in human progenitor cells is relatively new.
Where this research is happening
Los Angeles, UNITED STATES
- University of Southern California — Los Angeles, United States (Active)
Researchers
- Principal investigator: Quadrato, Giorgia — University of Southern California
- Study coordinator: Quadrato, Giorgia
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.