Understanding how gene changes affect ALS and FTD in people with the C9orf72 gene
Epigenetic Mechanisms Contributing to the Pathogenesis of ALS/FTD with GGGGCC Repeat Expansion Mutation at the C9orf72 Locus
This research explores how changes in gene activity, called epigenetics, might influence when and how severe ALS and FTD become in individuals who carry a specific genetic change in the C9orf72 gene.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11099959 on NIH RePORTER |
What this research studies
ALS and FTD are complex brain diseases, and while a specific gene change (C9orf72) is a common cause, not everyone with this change develops the illness. This suggests other factors are at play, and we believe that changes in how our genes are 'read' or 'expressed' (epigenetics) might be very important. We are looking closely at specific DNA changes, called methylation, around the C9orf72 gene in patients. Our goal is to understand if these methylation changes determine when symptoms start and how the disease progresses.
Who could benefit from this research
Good fit: This research is most relevant to individuals who carry the GGGGCC repeat expansion in the C9orf72 gene and are affected by or at risk for ALS or FTD.
Not a fit: Patients whose ALS or FTD is not linked to the C9orf72 gene expansion may not directly benefit from this specific line of research.
Why it matters
Potential benefit: If successful, this work could lead to new ways to predict, prevent, or treat ALS and FTD by targeting these epigenetic changes.
How similar studies have performed: While no effective treatments currently exist for C9orf72-related ALS/FTD, epigenetic factors are increasingly recognized as important contributors to disease risk and progression in neurodegenerative disorders.
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.