Stopping harmful DNA repeat expansions in Huntington's and Friedreich ataxia
Somatic Repeat Expansions as a Therapeutic Target for Trinucleotide Repeat Disorders
This project aims to stop or reduce the expanding DNA repeats that make Huntington’s disease and Friedreich ataxia worse, with the goal of delaying symptoms and reducing harm.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11307165 on NIH RePORTER |
What this research studies
The team will study why the repeated DNA sequences that cause Huntington's disease (CAG) and Friedreich ataxia (GAA) get longer over time in specific tissues by analyzing patient blood and tissue samples, genetic data, and laboratory models. They will look for genes and molecular pathways that drive these somatic expansions using genetic studies and experiments in cells and animal models. Researchers will test molecular tools such as antisense oligonucleotides and CRISPR-based methods in the lab to try to stop or reverse repeat growth. Results are intended to point toward therapies that directly target the unstable repeats to protect vulnerable cells.
Who could benefit from this research
Good fit: People with Huntington's disease or Friedreich ataxia—especially those with known expanded repeats or early-stage disease—who can provide samples or participate in translational studies would be ideal candidates.
Not a fit: Patients without trinucleotide repeat disorders or those unable or unwilling to provide samples or travel for study-related visits are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could lead to therapies that slow or prevent disease progression by stopping harmful repeat expansions, delaying onset and lessening symptoms.
How similar studies have performed: Related lab studies have shown proof-of-concept that targeting repeat expansions can help cells, and early clinical work on gene-targeting approaches for repeat disorders has produced mixed but informative results.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Mouro Pinto, Ricardo — Massachusetts General Hospital
- Study coordinator: Mouro Pinto, Ricardo
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.