Understanding how genetic changes cause Huntington's disease
Molecular mechanisms of triplet repeat instability in Huntington's disease
['FUNDING_R01'] · THOMAS JEFFERSON UNIVERSITY · NIH-10878982
This study is looking into how changes in a specific gene related to Huntington's disease might cause some people to show symptoms earlier than others, and it hopes to find new ways to help treat the condition.
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-10878982 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic mechanisms behind Huntington's disease, focusing on the instability of CAG repeat sequences in the huntingtin gene. By studying how these repeats expand in neurons, particularly in the striatum and cortex, researchers aim to uncover why some patients experience earlier onset of the disease. The study utilizes genetic analysis and mouse models to explore the role of DNA repair pathways in this process. Patients may benefit from insights that could lead to new therapeutic strategies targeting the underlying genetic causes of the disease.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Huntington's disease, particularly those with varying lengths of CAG repeats.
Not a fit: Patients with other neurodegenerative disorders unrelated to CAG repeat expansions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that slow down or prevent the progression of Huntington's disease.
How similar studies have performed: Previous research has shown promising results in understanding genetic mechanisms in similar neurodegenerative diseases, indicating potential for success in this area as well.
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.