Understanding how a gene called Tox3 affects brain development and movement problems like ataxia
Defining the role of Tox3 in congenital cerebellar hypoplasia and ataxia
This project explores how a specific gene, TOX3, helps build an important part of the brain called the cerebellum, which affects balance and movement.
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 ID | NIH-11134661 on NIH RePORTER |
What this research studies
The cerebellum is a vital brain area that helps us with balance, coordination, and even language and thinking. When the cerebellum doesn't develop properly, it can lead to conditions like ataxia, autism, and intellectual difficulties. This project focuses on how a gene called TOX3 plays a crucial role in forming the cells that make up most of the cerebellum. Researchers are using special mouse models to understand how losing TOX3 affects brain development and causes severe movement problems. By uncovering these mechanisms, we hope to learn more about the causes of these conditions.
Who could benefit from this research
Good fit: Patients with congenital cerebellar hypoplasia, ataxia, autism, or intellectual deficits linked to cerebellar dysfunction might eventually benefit from this foundational research.
Not a fit: Patients whose conditions are not related to cerebellar development or the TOX3 gene may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of the genetic causes of cerebellar disorders, potentially guiding future treatments for conditions like ataxia and autism.
How similar studies have performed: This project uses a novel mouse model to investigate the role of TOX3, a gene previously associated with epigenetics in T cells, in cerebellar development, making this a new area of focus for this gene.
Where this research is happening
Los Angeles, United States
- Cedars-Sinai Medical Center — Los Angeles, United States (Active)
Researchers
- Principal investigator: Breunig, Joshua John — Cedars-Sinai Medical Center
- Study coordinator: Breunig, Joshua John
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 below.