Investigating genetic variations linked to autism in brain cells
Official title: Cell-type specific and activity-dependent characterization of non-coding autism de novo variants in human stem cell-derived neurons
Funded at Icahn School of Medicine at Mount Sinai · NIH-11065514 · Data updated 2026-11-12
This study is looking at how certain genetic changes might affect brain cells and contribute to autism, with the hope of finding better ways to diagnose and treat people with autism.
Quick facts
| Grant type | Fellowship 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 | April 24, 2023 |
| Project end | April 23, 2026 |
| Funding year | 2025 |
| Award (this year) | $48,974 |
| NIH project number | 5F31MH133365-03 |
| Project ID | NIH-11065514 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children aged 0-11 years who have been diagnosed with autism spectrum disorder.
✕Less likely to help
Patients who do not have autism spectrum disorder or are older than 11 years may not benefit from this research.
What this research studies
This research focuses on understanding how specific genetic changes, known as de novo variants, contribute to autism spectrum disorder (ASD) by examining their effects in different types of brain cells derived from human stem cells. The researchers will analyze non-coding regions of the genome, which have been less studied but may play a crucial role in the disorder. By using advanced techniques to activate these cells, they aim to uncover how these genetic variants influence brain function and behavior. This could lead to better diagnostic tools and treatments for individuals with ASD.
Why it matters
Potential benefit: If successful, this research could enhance our understanding of autism and lead to improved therapies and diagnostic methods for affected individuals.
How similar studies have gone: Previous research has shown promise in understanding genetic contributions to autism, but this approach focusing on non-coding variants is relatively novel.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Williams, Sarah Elizabeth — Icahn School of Medicine at Mount Sinai
- Study coordinator: Williams, Sarah Elizabeth
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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.