Understanding how GEMIN5 mutations cause a new type of cerebellar ataxia
Official title: Identifying the molecular mechanisms of GEMIN5 mutations in a novel cerebellar ataxia syndrome
Funded at University of Pittsburgh at Pittsburgh · NIH-10930099 · Data updated 2026-11-12
This study is looking at how changes in the GEMIN5 gene might cause problems with movement and coordination in people with a specific type of cerebellar ataxia, and it aims to find out how these changes affect brain cells and test possible treatments to help improve symptoms.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project start | September 15, 2023 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $523,554 |
| NIH project number | 5R01NS134215-02 |
| Project ID | NIH-10930099 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for participation are individuals diagnosed with cerebellar ataxia linked to GEMIN5 mutations.
✕Less likely to help
Patients with cerebellar ataxia not associated with GEMIN5 mutations may not benefit from this research.
What this research studies
This research investigates the role of GEMIN5, an RNA-binding protein, in a newly identified cerebellar ataxia syndrome linked to mutations in the GEMIN5 gene. By studying patient-derived neurons and using animal models, the research aims to uncover the molecular mechanisms that lead to motor dysfunction and cerebellar atrophy. The team will explore how these mutations affect the assembly of essential cellular components and test potential treatments, such as CoQ10, that may alleviate symptoms. Patients with specific GEMIN5 mutations will be central to this investigation.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for patients suffering from cerebellar ataxia caused by GEMIN5 mutations.
How similar studies have gone: Previous research has shown promising results in understanding similar genetic mechanisms and their implications for treatment.
Where this research is happening
-
University of Pittsburgh at Pittsburgh
Pittsburgh, United States Active
Researchers
- Principal investigator: Pandey, Udai B — University of Pittsburgh at Pittsburgh
- Study coordinator: Pandey, Udai B
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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.