Understanding the causes of spinocerebellar ataxia type 12
Official title: Molecular Pathogenesis of spinocerebellar ataxia type 12
Funded at Johns Hopkins University · NIH-11001206 · Data updated 2026-11-12
This study is looking into spinocerebellar ataxia type 12 (SCA12), a genetic condition that causes tremors and walking difficulties, to better understand how a specific gene mutation affects the brain and to find new ways to help people with SCA12.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | January 1, 2023 |
| Project end | December 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $437,343 |
| NIH project number | 5R01NS122756-03 |
| Project ID | NIH-11001206 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with spinocerebellar ataxia type 12.
✕Less likely to help
Patients with other forms of ataxia or neurodegenerative diseases unrelated to SCA12 may not benefit from this research.
What this research studies
This research investigates spinocerebellar ataxia type 12 (SCA12), a genetic neurodegenerative disorder characterized by tremors and gait abnormalities. The study focuses on the genetic mutation in the PPP2R2B gene that leads to this condition, exploring how changes in gene expression and alternative splicing affect brain function. By analyzing the molecular mechanisms behind SCA12, the research aims to uncover potential pathways for future treatments. Patients with SCA12 may be monitored for changes in their condition as part of this research.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of SCA12 and pave the way for potential therapeutic strategies.
How similar studies have gone: Previous research on genetic mutations related to neurodegenerative diseases has shown promise, indicating that this approach could yield valuable insights.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Li, Pan — Johns Hopkins University
- Study coordinator: Li, Pan
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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.