How repeating DNA sequences expand and cause disease
Official title: Mechanisms of Genome Instability Mediated by Simple DNA Repeats
Funded at Tufts University Medford · NIH-11291810 · Data updated 2026-11-12
Researchers are looking at how certain repeating parts of DNA grow and lead to inherited disorders and some cancers.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Tufts University Medford NIH-funded |
| Lab location | 1 site (Boston, UNITED STATES) |
| Project start | March 14, 2019 |
| Project end | February 28, 2029 |
| Funding year | 2026 |
| Award (this year) | $574,349 |
| NIH project number | 5R35GM130322-08 |
| Project ID | NIH-11291810 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with inherited repeat-expansion conditions (for example Huntington disease, myotonic dystrophy, or certain ataxias) or patients whose tumors show repeat expansions would be most relevant to this research.
✕Less likely to help
Patients without conditions linked to DNA repeat expansions or whose care does not involve genetic mechanisms are unlikely to see direct benefit from this specific work.
What this research studies
This project uses lab experiments and long-read DNA sequencing to learn how short, repeating DNA pieces become much longer and unstable. The team studies the problem in bacteria, yeast, and human cells and has developed a new system that models large-scale repeat growth in human cells. They focus on how DNA copying machinery gets trapped at repeats and how different repair or copying pathways can add repeats, including in cells that no longer divide. By tracing the step-by-step ways repeats are copied or misrepaired, they hope to point to targets for future diagnostics or treatments.
Why it matters
Potential benefit: If successful, this work could reveal why repeat expansions happen and guide new ways to diagnose or treat dozens of inherited repeat disorders and some cancers.
How similar studies have gone: Prior work in bacteria, yeast, and some human-cell experiments has shown that repeats can stall DNA replication and expand, but large-scale repeat expansions in cancers and mechanistic studies in human cells are still emerging.
Where this research is happening
-
Tufts University Medford
Boston, United States Active
Researchers
- Principal investigator: Mirkin, Sergei — Tufts University Medford
- Study coordinator: Mirkin, Sergei
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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.