Understanding the causes of a genetic form of frontotemporal dementia
Defining mechanisms underlying C9orf72-associated frontotemporal dementia with C. elegans and mammalian models
This study is looking into how changes in the C9orf72 gene cause frontotemporal dementia, with the goal of finding ways to reduce the harmful effects of this gene and help develop new treatments for people affected by the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11012812 on NIH RePORTER |
What this research studies
This research investigates the genetic mechanisms behind frontotemporal dementia (FTD), particularly focusing on the C9orf72 gene, which is linked to about 25% of FTD cases. Using models like C. elegans and mammalian systems, the study aims to uncover how specific genetic expansions lead to neurodegeneration. The researchers are exploring the toxic effects of dipeptide repeat proteins produced by the gene and identifying genetic pathways that could mitigate this toxicity. By understanding these mechanisms, the research hopes to pave the way for potential therapeutic strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a genetic predisposition to frontotemporal dementia, particularly those with C9orf72 gene expansions.
Not a fit: Patients with frontotemporal dementia not linked to the C9orf72 gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients suffering from frontotemporal dementia.
How similar studies have performed: Previous research has shown promising results in understanding genetic mechanisms of neurodegenerative diseases, suggesting potential for success in this area as well.
Where this research is happening
Chicago, United States
- Northwestern University at Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Kalb, Robert G — Northwestern University at Chicago
- Study coordinator: Kalb, Robert G
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.