Investigating a genetic factor in Huntington's disease
An Alternative Isoform of RRM2B as a Genetic Modifier in Huntington's Disease
This study is looking at how a specific gene called RRM2B affects the progression of Huntington's disease, with the hope of finding new ways to treat the condition and improve the lives of those living with it.
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-10835918 on NIH RePORTER |
What this research studies
This research focuses on understanding the role of a specific genetic modifier, RRM2B, in the progression of Huntington's disease (HD). By examining how different isoforms of RRM2B affect mitochondrial function and overall disease pathogenesis, the study aims to identify potential therapeutic targets. The research involves detailed biological assays and experiments using human cells to explore the impact of genetic variations on HD. Patients may benefit from insights that could lead to new treatment strategies for this neurodegenerative disorder.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Huntington's disease who may have specific genetic variations related to RRM2B.
Not a fit: Patients without a diagnosis of Huntington's disease or those not carrying the relevant genetic variations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that modify the progression of Huntington's disease.
How similar studies have performed: Previous research has shown promise in targeting genetic modifiers in neurodegenerative diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Seong, Ihn Sik — Massachusetts General Hospital
- Study coordinator: Seong, Ihn Sik
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.