UTR variants in neurodevelopmental disorders: a fast track to understanding autism biology
Official title: HIGHLY PARALLEL ANALYSIS OF 5' AND 3' UTR VARIANTS IN NEURODEVELOPMENTAL DISORDERS
Funded at Washington University · NIH-11308240 · Data updated 2026-11-12
A research project at Washington University aims to understand how non-coding UTR regions of genes influence autism-related conditions by testing many variants in brain-relevant cells.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | June 19, 2018 |
| Project end | January 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $775,004 |
| NIH project number | 5R01MH116999-08 |
| Project ID | NIH-11308240 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with autistic disorder or related neurodevelopmental conditions who may contribute samples or benefit from improved genetic understanding in the future.
✕Less likely to help
Participants not directly affected by autism or those without related genetic findings may not experience immediate benefits.
What this research studies
This project focuses on untranslated regions (UTRs) of mRNAs that regulate protein production in brain cells. Researchers will use massively parallel reporter assays and cell-type specific translation profiling to identify UTR mutations that change protein levels in neural contexts. The goal is to build a pipeline that links specific UTR variants to functional consequences in neurodevelopmental disorders like autism, paving the way for better understanding and potential future interventions. The work involves human disease relevance, brain-relevant cell models, and high-throughput functional testing to interpret non-coding genetic variation.
Why it matters
Potential benefit: If successful, this work could clarify which non-coding variants contribute to autism, guiding future diagnostics and targeted therapies.
How similar studies have gone: Previous projects have shown that non-coding UTR variants can affect gene expression, and this approach extends those findings to neurodevelopmental questions with high-throughput testing.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Dougherty, Joseph D — Washington University
- Study coordinator: Dougherty, Joseph D
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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.