Understanding how a gene called Tox3 affects brain development and movement problems like ataxia
Official title: Defining the role of Tox3 in congenital cerebellar hypoplasia and ataxia
Funded at Cedars-Sinai Medical Center · NIH-11134661 · Data updated 2026-11-12
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 start | July 15, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $462,744 |
| NIH project number | 5R01NS131782-02 |
| Project ID | NIH-11134661 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with congenital cerebellar hypoplasia, ataxia, autism, or intellectual deficits linked to cerebellar dysfunction might eventually benefit from this foundational research.
✕Less likely to help
Patients whose conditions are not related to cerebellar development or the TOX3 gene may not directly benefit from this specific research.
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.
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 gone: 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
-
Cedars-Sinai Medical Center
Los Angeles, United States Active
Researchers
- Principal investigator: Breunig, Joshua John — Cedars-Sinai Medical Center
- Study coordinator: Breunig, Joshua John
Related research
Other NIH-funded projects on the same topics.
-
Modeling Ataxia Telangiectasia in a human stem cell model of Purkinje cells
Researchers are creating a patient-derived, human cell model of Purkinje cells to understand why this brain disease causes cerebellar degeneration in people with Ataxia Telangiectasia.
-
VEGF-mimetic nanoparticles to help spinocerebellar ataxia type 1
A new, patient-friendly approach is being developed to deliver a VEGF-like therapy using tiny particles that could protect brain cells in spinocerebellar ataxia type 1.
-
Understanding early Friedreich ataxia in children to improve how we measure outcomes
This study looks at how Friedreich ataxia starts and progresses in kids to create better, child-friendly measures for tracking the disease and testing treatments.
-
Targeting FICD to Help Spinocerebellar Ataxia Type 3 (SCA3)
A brain-focused project tests whether blocking FICD, a protein in cells’ ER quality system, can slow or prevent damage in people (via animal and cell studies) who have spinocerebellar ataxia type 3.
-
Understanding how unstable GAA repeats affect Friedreich’s ataxia progression
A study in adults and children with Friedreich’s ataxia will look at how changes in GAA repeat length inside the FXN gene relate to the disease’s start and progression.
-
Biomarkers to measure how well QTE therapy works for Friedreich's ataxia
Aiming to find blood and muscle signals that show whether a new FRDA treatment (QTE therapy) is working.
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.