Mapping brain circuits affected by DDX3X mutations linked to autism
Official title: Global mapping of altered neural circuits in a mouse model of DDX3X mutations
Funded at Icahn School of Medicine at Mount Sinai · NIH-11067814 · Data updated 2026-11-12
This study is looking at how changes in a specific gene linked to autism can impact brain development and function, using mice to help us learn more about the brain's wiring and activity, which could eventually lead to new treatments for autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | July 15, 2023 |
| Project end | April 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $712,261 |
| NIH project number | 5R01MH131537-03 |
| Project ID | NIH-11067814 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals, particularly females, who have been diagnosed with autism spectrum disorder and may have DDX3X mutations.
✕Less likely to help
Patients without autism spectrum disorder or those whose conditions are unrelated to DDX3X mutations may not benefit from this research.
What this research studies
This research investigates how mutations in the DDX3X gene, which are associated with autism spectrum disorder (ASD), affect brain development and function. Using a mouse model, the study aims to understand the neural circuits that are altered due to these mutations. By employing advanced techniques to profile brain activity and connectivity, the researchers hope to uncover the biological mechanisms underlying ASD. This could lead to identifying new therapeutic targets for treatment.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential treatments for individuals with autism spectrum disorder.
How similar studies have gone: While research on DDX3X mutations and their effects on autism is ongoing, this specific approach to mapping neural circuits is relatively novel and has not been extensively tested.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: De Rubeis, Silvia — Icahn School of Medicine at Mount Sinai
- Study coordinator: De Rubeis, Silvia
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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.