Understanding and fixing SETD5-related brain problems in children with autism and intellectual disability
Official title: Novel SETD5-based Molecular Mechanisms and Therapeutic Tools to Understand and Revert Neuronal Dysfunction Associated with Intellectual disability and Autism
Funded at University of California, San Diego · NIH-11266125 · Data updated 2026-11-12
Developing treatments that target the SETD5 gene to help young children with autism and intellectual disability.
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 | March 5, 2022 |
| Project end | December 31, 2026 |
| Funding year | 2026 |
| Award (this year) | $778,227 |
| NIH project number | 5R01MH127077-05 |
| Project ID | NIH-11266125 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children (often diagnosed in the first two years) with autism and intellectual disability who have a confirmed SETD5 genetic change or a closely related genetic diagnosis.
✕Less likely to help
People whose autism or intellectual disability is not linked to SETD5 (or similar genetic causes) are unlikely to directly benefit from these specific SETD5-focused approaches.
What this research studies
This project focuses on the SETD5 gene, which is linked to some cases of intellectual disability and autism diagnosed in early childhood. Researchers will study how SETD5 changes affect brain cells using lab-grown cells and experimental models, and will map how DNA packaging and gene activity are altered. They plan to test molecular tools, including gene-targeting approaches like antisense oligonucleotides, to try to restore normal neuron function. The goal is to move promising approaches toward options that could eventually benefit affected children and families.
Why it matters
Potential benefit: If successful, this work could point to new gene-based treatments that improve brain function in children with SETD5-related autism or intellectual disability.
How similar studies have gone: Gene-targeting approaches and antisense drugs have shown real clinical benefit in other genetic brain disorders, but applying these methods to SETD5 is a newer and largely untested direction.
Where this research is happening
-
University of California, San Diego
La Jolla, United States Active
Researchers
- Principal investigator: Muotri, Alysson R. — University of California, San Diego
- Study coordinator: Muotri, Alysson R.
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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.