How GEMIN5 gene changes cause a newly described 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-11167800 · Data updated 2026-11-12
This project looks at whether GEMIN5 gene changes damage nerve-cell splicing machinery and whether treatments like CoQ10 can help people with a new form of cerebellar ataxia.
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 | 2025 |
| Award (this year) | $539,746 |
| NIH project number | 5R01NS134215-03 |
| Project ID | NIH-11167800 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are people with early-onset motor dysfunction, ataxia, cerebellar atrophy, and confirmed or suspected GEMIN5 mutations, or those willing to provide blood or skin samples for genetic and cellular studies.
✕Less likely to help
People with other causes of ataxia who do not carry GEMIN5 variants or those with end-stage disease are unlikely to benefit directly from this specific research.
What this research studies
Researchers are studying cells from affected patients and patient-derived neurons to see how GEMIN5 mutations disrupt assembly of splicing complexes. They will test molecular effects on snRNP formation and protein stability, and use fruit fly and mouse models to link those changes to motor problems. The team is also measuring CoQ10 levels and testing whether CoQ10 supplementation improves signs in patient cells and animal models. The work combines lab studies of patient samples with genetic animal models to pinpoint causes and possible treatments.
Why it matters
Potential benefit: If successful, this work could point to treatments—such as CoQ10 supplementation or approaches to restore normal splicing—that slow or improve motor symptoms in people with GEMIN5-related ataxia.
How similar studies have gone: Early patient-cell data and animal-model experiments reported by the team suggest CoQ10 levels are low and supplementation helped in models and initial patient observations, but this genetic form is newly described and broader clinical evidence is limited.
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.