Understanding GEMIN5 mutations and 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-11382302 · Data updated 2026-11-12
Researchers are studying how changes in the GEMIN5 gene cause motor problems and cerebellar atrophy in people with Aran-Duchenne-like 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 | 2026 |
| Award (this year) | $539,746 |
| NIH project number | 5R01NS134215-04 |
| Project ID | NIH-11382302 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with GEMIN5-related cerebellar ataxia or similar motor-neurological presentations linked to GEMIN5 variants.
✕Less likely to help
Individuals without GEMIN5 mutations or with unrelated neurological conditions may not benefit from this research.
What this research studies
GEMIN5 helps build the cellular machinery that processes RNA, and this project investigates how specific GEMIN5 variants disrupt this process in patient-derived neurons and model organisms. Scientists will examine how mutant GEMIN5 affects snRNP assembly, RNA splicing, and neuronal function, using patient cells, fruit fly models, and a mouse model. The work aims to connect molecular changes to the neurological features seen in patients and to explore potential therapeutic angles. This research could illuminate why these individuals develop motor dysfunction and cerebellar atrophy and identify targets for intervention.
Why it matters
Potential benefit: Gaining a clearer picture of disease mechanisms could lead to new ideas for treatments or interventions to slow or lessen symptoms.
How similar studies have gone: Initial studies show that GEMIN5 variants affect protein levels and snRNP assembly, with preliminary data suggesting possible CoQ10-related effects, making this a plausible path with existing hints of benefit.
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.