Genes that change how Huntington's disease progresses
Disease-Modifying Genes in Huntington's Disease
This research looks at genetic changes that can make Huntington's symptoms start earlier or later in people who carry the HTT mutation.
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-11295747 on NIH RePORTER |
What this research studies
This project analyzes DNA from people with the Huntington's mutation and examines donated brain tissue to find genes that alter disease timing. Researchers have already found several modifier locations in the genome, including DNA repair genes that seem to affect how the CAG repeat grows in cells over time. The team combines human genetic studies, sequencing, and postmortem brain analysis to map which genes act, when they act, and how that connects to symptom onset. Ultimately the work is aimed at finding biological points where new treatments could slow or block the disease process.
Who could benefit from this research
Good fit: Ideal participants are people who carry the HTT CAG expansion (either pre-symptomatic or symptomatic) who can provide clinical data, blood samples, or consent for brain donation.
Not a fit: People without the HTT mutation or with other non‑Huntington's neurodegenerative conditions would not directly benefit from this work.
Why it matters
Potential benefit: If successful, the findings could point to targets for treatments that delay symptom onset or slow disease progression in people with Huntington's disease.
How similar studies have performed: Prior genetic studies have identified modifier loci and implicated DNA repair and somatic CAG expansion in HD timing, but translating those findings into proven treatments remains unconfirmed.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Gusella, James F — Massachusetts General Hospital
- Study coordinator: Gusella, James F
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.