Understanding how a specific gene affects brain development and coordination disorders
Official title: Defining the role of Tox3 in congenital cerebellar hypoplasia and ataxia
Funded at Cedars-Sinai Medical Center · NIH-10991047 · Data updated 2026-11-12
This study is looking at how a specific gene called TOX3 affects the development of a part of the brain that helps with balance and coordination, and it aims to find out how changes in this gene might be linked to conditions like ataxia and autism, which could help patients understand these disorders better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cedars-Sinai Medical Center NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project start | July 15, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $462,744 |
| NIH project number | 1R01NS131782-01A1 |
| Project ID | NIH-10991047 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with congenital cerebellar hypoplasia, ataxia, or related developmental disorders.
✕Less likely to help
Patients with conditions unrelated to cerebellar function or those who do not have genetic predispositions linked to the TOX3 gene may not benefit from this research.
What this research studies
This research investigates the role of the TOX3 gene in the development of the cerebellum, a brain region crucial for balance and coordination. By studying genetically modified mice, the researchers aim to uncover how changes in this gene can lead to conditions like ataxia and autism. The approach involves examining the genetic and epigenetic factors that influence the formation of cerebellar granule cells, which are essential for normal brain function. Patients may benefit from insights gained about the underlying mechanisms of these disorders.
Why it matters
Potential benefit: If successful, this research could lead to new understanding and potential treatments for coordination disorders and related conditions.
How similar studies have gone: Previous research has shown promising results in understanding the genetic basis of cerebellar disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Cedars-Sinai Medical Center
Los Angeles, United States Active
Researchers
- Principal investigator: Breunig, Joshua John — Cedars-Sinai Medical Center
- Study coordinator: Breunig, Joshua John
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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.