Gene dosage and brain development in 17p- syndrome and autism
Official title: Gene dosage, synaptic neotony, and neurodevelopmental disorders
Funded at University of Michigan at Ann Arbor · NIH-11356547 · Data updated 2026-11-12
A study using human cell models to understand how changes in a gene called RAI1 affect brain development in people with 17p- syndrome and autism.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | September 1, 2026 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $429,000 |
| NIH project number | 1R21MH144311-01 |
| Project ID | NIH-11356547 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with 17p- syndrome (SMS/PTLS-linked) or related neurodevelopmental disorders may be eligible through their participation in iPSC-derived models and future translational trials.
✕Less likely to help
People without 17p- syndrome or related conditions may not directly benefit from this research.
What this research studies
Researchers will create human brain cell models from patient-derived stem cells to study how different levels of the RAI1 gene change the timing and wiring of synapses. They will use 3-D cerebral organoids to mimic early brain development and examine how gene dosage impacts neural connections and function. The goal is to identify mechanisms that could be targeted to develop treatments for SMS and PTLS-related neurodevelopmental issues.
Why it matters
Potential benefit: Understanding the mechanisms may lead to targeted therapies that improve brain development in affected individuals.
How similar studies have gone: Previous work shows that altering gene dosage can affect synapse development in human-derived neural models, suggesting this approach could reveal actionable targets.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Sutton, Michael Mark Alexander — University of Michigan at Ann Arbor
- Study coordinator: Sutton, Michael Mark Alexander
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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.