Improving SYNGAP1 function to help with autism
Official title: Rescuing SYNGAP1 haploinsufficiency by redirecting alternative splicing
Funded at University of Chicago · NIH-11047659 · Data updated 2026-11-12
This study is looking at how changes in the SYNGAP1 gene affect autism and aims to find new ways to help people with these gene changes by fixing the proteins that are often low in their cells.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | April 1, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $517,833 |
| NIH project number | 5R01MH130594-03 |
| Project ID | NIH-11047659 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with autism spectrum disorders linked to SYNGAP1 mutations.
✕Less likely to help
Patients without SYNGAP1 mutations or those with other unrelated neurodevelopmental disorders may not benefit from this research.
What this research studies
This research focuses on understanding how changes in the SYNGAP1 gene contribute to autism and related disorders. By using innovative techniques to redirect the way this gene is spliced, the researchers aim to restore normal protein levels that are often deficient in individuals with SYNGAP1 mutations. The study involves both genetic approaches and the use of specialized oligonucleotides to target and modify the splicing process in cells derived from patients. Ultimately, the goal is to develop new therapeutic strategies that could improve outcomes for those affected by these genetic changes.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that enhance SYNGAP1 protein expression, potentially improving symptoms for individuals with autism spectrum disorders.
How similar studies have gone: Previous research has shown promise in using splice-switching oligonucleotides for similar genetic conditions, indicating a potential for success in this approach.
Where this research is happening
-
University of Chicago
Chicago, United States Active
Researchers
- Principal investigator: Zhang, Xiaochang — University of Chicago
- Study coordinator: Zhang, Xiaochang
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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.