How Huntington's gene repeats change and harm the brain
Huntington's Disease Repeat Instability and Pathogenesis
['FUNDING_R01'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11304491
This work looks at why the HTT gene's repeating DNA gets longer in the brain and how that speeds damage in people with or at risk for Huntington's disease.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11304491 on ClinicalTrials.gov |
What this research studies
This project focuses on the CAG repeat in the HTT gene that drives Huntington's disease and becomes longer in affected brain regions. The team uses genetic experiments in mice to test whether changing somatic repeat expansion changes disease features and timing. They also study cells taken from people with Huntington's and from mouse models to learn how DNA repair 'modifier' genes affect repeat growth. Together these lab and animal approaches aim to reveal mechanisms that could be targeted to slow or prevent harmful repeat expansion.
Who could benefit from this research
Good fit: People who have Huntington's disease or carry the expanded HTT CAG repeat, and who are willing to provide blood or tissue samples or participate in related studies, would be most relevant.
Not a fit: People without the HTT CAG expansion or with other unrelated neurological conditions would not be expected to benefit directly from this research.
Why it matters
Potential benefit: If successful, the work could identify targets that lead to treatments slowing or delaying Huntington's disease progression.
How similar studies have performed: Human genetic studies and mouse model work have already linked DNA repair genes to somatic CAG expansion and modified disease onset, so parts of this approach have supporting evidence though targeted therapies remain unproven.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WHEELER, VANESSA C — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: WHEELER, VANESSA C
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.