Decoding how GAA repeats in FGF14 cause SCA27B
Official title: DECIPHERING THE MOLECULAR BASIS OF SOMATIC GAA-REPEAT DYNAMICS IN SCA27B
Funded at University of Miami School of Medicine · NIH-11630855 · Data updated 2026-11-12
This project looks at why a specific DNA repeat in the FGF14 gene leads to Spinocerebellar Ataxia 27B in adults.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Miami School of Medicine NIH-funded |
| Lab location | 1 site (Coral Gables, United States) |
| Project start | September 17, 2026 |
| Project end | July 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $378,000 |
| NIH project number | 3RM1NS143831-01S1 |
| Project ID | NIH-11630855 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with Spinocerebellar Ataxia 27B or related cerebellar ataxias, and individuals whose samples are available for genetic studies.
✕Less likely to help
People without SCA27B or without access to the study's genetic analyses may not benefit.
What this research studies
Scientists will study how GAA repeats in the FGF14 gene behave in brain tissue and cell models to understand why they expand and cause late-onset cerebellar ataxia. The work builds on patient data from thousands screened and uses cell lines and cerebellar tissue to trace the molecular steps from the repeat to neuron dysfunction. Findings could reveal targets to slow or stop progression of SCA27B and related disorders. This is a basic science effort with potential implications for diagnosis and future therapies in humans.
Why it matters
Potential benefit: If successful, the research could inform future treatments that slow neurodegeneration in SCA27B.
How similar studies have gone: Prior work on repeat expansions in human diseases has suggested repeats can expand and drive disease; this study extends that knowledge to SCA27B.
Where this research is happening
-
University of Miami School of Medicine
Coral Gables, United States Active
Researchers
- Principal investigator: Zuchner, Stephan — University of Miami School of Medicine
- Study coordinator: Zuchner, Stephan
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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.