Understanding CAG repeat instability in Huntington’s disease
Official title: Molecular mechanisms of triplet repeat instability in Huntington's disease
Funded at Thomas Jefferson University · NIH-11630975 · Data updated 2026-11-12
A Huntington’s disease study explores why the CAG repeat in the HTT gene becomes unstable and leads to earlier disease, aiming to uncover factors that influence when and how the disease starts.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | July 1, 2021 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $539,089 |
| NIH project number | 2R56NS118082-06 |
| Project ID | NIH-11630975 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with Huntington’s disease or at risk due to CAG repeat expansion may benefit from insights into disease onset and progression.
✕Less likely to help
No direct benefit until therapies or diagnostic tools are developed based on these mechanisms.
What this research studies
This project investigates why the Huntington’s disease gene’s CAG repeat becomes unstable over time, especially in neurons. It looks at how age, somatic expansion, and genetic modifiers in DNA repair pathways affect when symptoms appear. The research combines human data and animal models to map how different genes influence repeat behavior and disease onset. Results could point to new targets to slow or modify disease progression in people affected by HD.
Why it matters
Potential benefit: Findings could lead to new strategies to delay onset or lessen severity of Huntington’s disease.
How similar studies have gone: Previous studies in mice and human data show that DNA repair pathways influence CAG repeat instability, supporting the potential of this approach.
Where this research is happening
-
Thomas Jefferson University
Philadelphia, United States Active
Researchers
- Principal investigator: Pluciennik, Anna — Thomas Jefferson University
- Study coordinator: Pluciennik, Anna
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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.