Mapping brain circuit changes linked to DDX3X gene mutations
Global mapping of altered neural circuits in a mouse model of DDX3X mutations
This project maps how changes in the DDX3X gene alter brain circuits to better understand autism, especially in females.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| 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 ID | NIH-11311915 on NIH RePORTER |
What this research studies
Researchers use mice engineered to carry the same DDX3X mutations seen in some people with autism to identify which brain circuits are altered. They combine brain imaging, cell-level molecular profiling, and behavior monitoring to link specific neural pathways to changes in behavior. The team will compare male and female animals to explore sex differences in circuit function. Results are intended to point toward cellular targets or pathways that could be tested in future human-focused studies or treatments.
Who could benefit from this research
Good fit: People with autism who carry DDX3X mutations (most often females) would be the most relevant group for the findings of this work.
Not a fit: People with autism who do not have DDX3X mutations or whose symptoms come from other causes may not directly benefit from this specific work.
Why it matters
Potential benefit: If successful, this work could reveal brain pathways and cellular targets that lead to new treatments for autism linked to DDX3X mutations.
How similar studies have performed: Prior animal studies show DDX3X affects brain development, but comprehensive circuit-level mapping like this is a newer and more detailed approach.
Where this research is happening
New York, United States
- 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
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.