Understanding how DNA repair pathways affect genetic instability
Crosstalk between DNA repair pathways in repeat instability
This study is looking at how certain repetitive parts of our DNA can become unstable and cause neurodegenerative diseases like Huntington’s and Fragile X syndrome, with the hope of finding new ways to help manage these conditions.
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-11000289 on NIH RePORTER |
What this research studies
This research investigates the role of repetitive DNA sequences in the human genome and how their instability can lead to various neurodegenerative diseases. It focuses on the mechanisms of DNA mismatch repair (MMR) and its unexpected role in causing triplet repeat expansions, which are linked to conditions like Huntington’s disease and Fragile X syndrome. By studying these processes, the research aims to uncover how DNA repair pathways can be manipulated to prevent or mitigate the effects of genetic instability. Patients may benefit from insights that could lead to new therapeutic strategies for managing these conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with neurodegenerative diseases associated with triplet repeat expansions, such as Huntington's disease or Fragile X syndrome.
Not a fit: Patients without genetic predispositions to neurodegenerative diseases or those not affected by repeat instability may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that reduce the risk or severity of neurodegenerative diseases caused by DNA repeat instability.
How similar studies have performed: Previous research has shown that understanding DNA repair mechanisms can lead to significant advancements in treating genetic disorders, suggesting a promising avenue for this investigation.
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.