CRISPR therapy targeting CAG repeats in SCA12
Official title: CRISPR/Cas9-Mediated Therapeutic Targeting of CAG Repeats in Spinocerebellar Ataxia Type 12
Funded at Johns Hopkins University · NIH-11364275 · Data updated 2026-11-12
A new gene-editing approach using CRISPR to remove a disease-causing repeat in a gene linked to spinocerebellar ataxia type 12, tested in models and human cell lines.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | September 21, 2026 |
| Project end | February 29, 2028 |
| Funding year | 2026 |
| Award (this year) | $581,250 |
| NIH project number | 1R61NS149087-01 |
| Project ID | NIH-11364275 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with spinocerebellar ataxia type 12 or those carrying PPP2R2B CAG repeat expansions who could participate in future translational studies.
✕Less likely to help
Patients without the PPP2R2B CAG expansion or without access to future therapeutic trials may not benefit.
What this research studies
This project uses CRISPR/Cas9 to remove a toxic CAG repeat in PPP2R2B with the goal of preventing or slowing ataxia symptoms. Researchers created a mouse model and human iPSC lines to study disease mechanisms and test therapies. They are exploring how removing the repeat affects gene expression and motor function, with preliminary results showing efficient repeat removal in cells. The work involves translating findings from cells and mice toward potential human therapies in the future.
Why it matters
Potential benefit: If successful, this approach could lead to a one-time genetic intervention that reduces disease progression for people with SCA12.
How similar studies have gone: CRISPR-based strategies for repeat expansion diseases have shown promise in preclinical models, supporting potential progress for SCA12.
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.