Investigating a new type of ataxia linked to the POU4F1 gene
Official title: Role of POU4F1 in a Novel Form of Ataxia
Funded at University of Wisconsin-Madison · NIH-10878883 · Data updated 2026-11-12
This study is looking into a new type of ataxia caused by changes in a specific gene, and it aims to create brain cell models to see how these changes affect coordination and muscle control, all while also gathering information from patients to improve understanding and treatment of this condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin-Madison NIH-funded |
| Lab location | 1 site (Madison, United States) |
| Project start | July 1, 2023 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $244,453 |
| NIH project number | 5R21NS130319-02 |
| Project ID | NIH-10878883 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with ataxia linked to POU4F1 mutations, particularly those with childhood onset symptoms.
✕Less likely to help
Patients with ataxia not associated with POU4F1 mutations or those with other neurological disorders may not benefit from this research.
What this research studies
This research focuses on understanding a novel ataxia syndrome caused by mutations in the POU4F1 gene, which affects coordination and muscle tone. Researchers will create human brain cell models to study how these mutations impact brain development and function. By analyzing the genetic and epigenetic changes in these cells, the team aims to uncover the underlying mechanisms of this disorder. Additionally, they will establish a patient registry to better characterize the clinical features of this condition, which may help in future diagnosis and treatment.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of a rare ataxia syndrome, potentially benefiting affected individuals and their families.
How similar studies have gone: While the specific approach of using iPSC models for this novel ataxia is relatively new, similar methodologies have shown promise in understanding other genetic neurological disorders.
Where this research is happening
-
University of Wisconsin-Madison
Madison, United States Active
Researchers
- Principal investigator: Webb, Bryn D — University of Wisconsin-Madison
- Study coordinator: Webb, Bryn D
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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.