Understanding Genetic Changes in Huntington's Disease
Molecular mechanisms of triplet repeat instability in Huntington's disease
['FUNDING_R01'] · THOMAS JEFFERSON UNIVERSITY · NIH-11121064
This research looks at the genetic changes that cause Huntington's disease to understand why brain cells are affected.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | THOMAS JEFFERSON UNIVERSITY (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11121064 on ClinicalTrials.gov |
What this research studies
Huntington's disease happens when a specific genetic repeat in the brain gets longer, leading to the loss of brain cells. This lengthening of the genetic repeat, called CAG, is unstable and tends to expand more as a person ages, which can cause the disease to start earlier. This project aims to discover the exact ways these genetic changes occur and identify the proteins that play a role in this process. Researchers are also exploring how certain genes might influence when the disease begins. The goal is to better understand the fundamental processes that contribute to Huntington's disease.
Who could benefit from this research
Good fit: This foundational research is not directly recruiting patients but aims to benefit individuals living with or at risk for Huntington's disease in the future.
Not a fit: Patients will not receive direct immediate benefit from participating in this foundational laboratory research.
Why it matters
Potential benefit: If successful, this work could lead to new treatments that slow down or prevent the genetic changes that cause Huntington's disease.
How similar studies have performed: Previous studies in both human genetics and mouse models have identified specific genes and pathways that influence the genetic instability seen in Huntington's disease.
Where this research is happening
PHILADELPHIA, UNITED STATES
- THOMAS JEFFERSON UNIVERSITY — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PLUCIENNIK, ANNA — THOMAS JEFFERSON UNIVERSITY
- Study coordinator: PLUCIENNIK, ANNA
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.