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
This study is looking at how changes in a specific part of our DNA might affect the development of ALS and frontotemporal dementia in people with a certain genetic mutation, to help understand why some people get these diseases while others don’t.
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-10873284 on NIH RePORTER |
What this research studies
This research focuses on understanding the role of epigenetic mechanisms, particularly DNA methylation, in the development of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) associated with a specific genetic mutation. Researchers will explore how changes in DNA methylation at the C9orf72 locus influence the onset and progression of these diseases. By utilizing advanced techniques like CRISPR, they aim to manipulate DNA methylation patterns to uncover their effects on cellular function and 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 with the GGGGCC repeat expansion mutation at the C9orf72 locus who are at risk for ALS or FTD.
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 indicated that epigenetic factors play a significant role in ALS and FTD, suggesting that this approach could yield valuable insights.
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.