Understanding how a genetic mutation affects brain development in autism.
Official title: Investigation of how axon development is disrupted by the autism-causing Timothy syndrome mutation.
Funded at University of Wisconsin Milwaukee · NIH-10634578 · Data updated 2026-11-12
This study is looking at how a specific genetic change linked to Timothy syndrome affects the growth and connections of nerve cells, which is important for brain health, and it aims to help us understand more about autism and similar conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin Milwaukee NIH-funded |
| Lab location | 1 site (Milwaukee, United States) |
| Project start | September 24, 2019 |
| Project end | June 30, 2025 |
| Funding year | 2023 |
| Award (this year) | $342,000 |
| NIH project number | 5R01MH119157-05 |
| Project ID | NIH-10634578 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with autism, particularly those with a known Timothy syndrome mutation or related genetic variations.
✕Less likely to help
Patients without autism or those whose conditions are unrelated to the genetic mechanisms being studied may not benefit from this research.
What this research studies
This research investigates the effects of the Timothy syndrome mutation on axon development, which is crucial for proper brain function. By using a model organism, C. elegans, the study aims to uncover how this mutation disrupts axon targeting and connectivity. The researchers will also explore how the mutation impacts autophagy, a process that helps maintain cellular health, and whether other related genetic mutations have similar effects. The findings could provide valuable insights into the biological mechanisms of autism and related disorders.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential diagnostic tools for autism and related neurodevelopmental disorders.
How similar studies have gone: While the specific focus on the Timothy syndrome mutation is novel, research on calcium channels and their role in neurodevelopmental disorders has shown promising results in the past.
Where this research is happening
-
University of Wisconsin Milwaukee
Milwaukee, United States Active
Researchers
- Principal investigator: Quinn, Christopher C — University of Wisconsin Milwaukee
- Study coordinator: Quinn, Christopher C
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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.