Investigating how genetic changes affect ALS and frontotemporal dementia
Epigenetic mechanisms contributing to the pathogenesis of ALS/FTD with GGGGCC repeat expansion mutation at the C9orf72 locus
['FUNDING_R01'] · COLUMBIA UNIVERSITY HEALTH SCIENCES · NIH-10987828
This study is looking at how certain changes in our genes might affect people with ALS and frontotemporal dementia, especially those with a specific genetic mutation, to help understand why some people get sick while others don’t.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | COLUMBIA UNIVERSITY HEALTH SCIENCES (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-10987828 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding the genetic mutation at the C9orf72 locus, which is linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The study aims to explore how epigenetic factors, particularly DNA methylation, influence the onset and progression of these diseases in individuals with the G4C2 repeat expansion. By utilizing advanced techniques like CRISPR, researchers will investigate the role of methylation in modifying disease outcomes. This could lead to insights into why some individuals with the mutation develop symptoms while others do not.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with ALS or FTD who carry the C9orf72 mutation.
Not a fit: Patients without the C9orf72 mutation or those with other forms of ALS or FTD may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that modify disease progression in ALS and FTD patients.
How similar studies have performed: Previous research has shown that epigenetic factors play a significant role in ALS and FTD, indicating that this approach has potential for success.
Where this research is happening
NEW YORK, UNITED STATES
- COLUMBIA UNIVERSITY HEALTH SCIENCES — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LIU, X. SHAWN — COLUMBIA UNIVERSITY HEALTH SCIENCES
- Study coordinator: LIU, X. SHAWN
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.
Conditions: Amyotrophic Lateral Sclerosis Motor Neuron Disease