How DNA repair systems interact to drive repeat DNA instability
Crosstalk between DNA repair pathways in repeat instability
This work looks at how interactions between DNA repair systems can cause expansions of repeat DNA that underlie conditions like Huntington’s disease, Fragile X, and Friedreich’s ataxia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11243524 on NIH RePORTER |
What this research studies
From a patient perspective, scientists are studying why short repeated DNA sequences sometimes grow longer and cause neurodegenerative disease. They will use biochemical experiments, cell models, and animal systems to watch how different DNA repair proteins interact and influence repeat length. The team focuses on mismatch repair pathways that unexpectedly promote repeat expansions and will combine genetics with cell extracts to map the molecular steps. These lab-based findings aim to point to molecular targets that could later be tested in patients.
Who could benefit from this research
Good fit: People with inherited repeat-expansion disorders (for example Huntington’s disease, Fragile X, or Friedreich’s ataxia) or their family members who can provide blood or tissue samples would be most relevant to this line of research.
Not a fit: Patients with conditions unrelated to repeat-expansion disorders or those unwilling/unable to provide samples are unlikely to receive direct benefit from this basic laboratory research.
Why it matters
Potential benefit: If successful, the work could identify molecular mechanisms to target in order to prevent or slow harmful repeat expansions in affected patients.
How similar studies have performed: Prior laboratory studies have linked mismatch repair proteins to repeat expansions, but the detailed molecular mechanisms remain unclear and this project builds on those suggestive findings.
Where this research is happening
Philadelphia, United States
- Thomas Jefferson University — Philadelphia, United States (Active)
Researchers
- Principal investigator: Pluciennik, Anna — Thomas Jefferson University
- Study coordinator: Pluciennik, Anna
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 below.