Understanding how DNA repair pathways affect genetic instability
Official title: Crosstalk between DNA repair pathways in repeat instability
Funded at Thomas Jefferson University · NIH-11000289 · Data updated 2026-11-12
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 start | February 1, 2023 |
| Project end | December 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $280,800 |
| NIH project number | 5R01GM144553-03 |
| Project ID | NIH-11000289 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with neurodegenerative diseases associated with triplet repeat expansions, such as Huntington's disease or Fragile X syndrome.
✕Less likely to help
Patients without genetic predispositions to neurodegenerative diseases or those not affected by repeat instability may not benefit from this research.
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.
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 gone: 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
-
Thomas Jefferson University
Philadelphia, United States Active
Researchers
- Principal investigator: Pluciennik, Anna — Thomas Jefferson University
- Study coordinator: Pluciennik, Anna
Related research
Other NIH-funded projects on the same topics.
-
Understanding CAG repeat instability in Huntington’s disease
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.
-
Noninvasive portal pressure estimation using ultrasound-based subharmonic signals
A noninvasive ultrasound method to estimate portal vein pressure in adults with cirrhosis to help manage varices and ascites.
-
Twice-reading RNA sequencing to better map RNA modifications
Researchers are using a novel method to read RNA twice to more accurately map chemical modifications in human transcripts, which could help us understand health and disease.
-
Improving HIV Prevention for Women in ObGyn Care
Aimed at helping women in obstetric/gynecologic care reduce their risk of HIV by making PrEP and risk–screening more accessible and acceptable.
-
Immunostimulatory short non-coding RNAs and lupus
A study in people with lupus looks at tiny RNA pieces that may spark inflammation, to understand if they drive disease activity.
-
Global Network for Women’s and Children’s Health: New Cycle Leadership and Collaboration
A long-standing collaboration between TJU and JNMC is expanding to lead and coordinate efforts to improve the health of mothers and young children in low-resource settings.
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.