Investigating how nerve cell activity affects neurodegeneration linked to a specific genetic mutation.
The pathogenic relationship between neuronal activity and C9orf72-linked neurodegeneration
This study is looking at how changes in brain cell activity might affect the progression of ALS and frontotemporal dementia in people with a specific genetic mutation, to help us understand these conditions better and find new ways to help.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10609967 on NIH RePORTER |
What this research studies
This research focuses on understanding the relationship between neuronal activity and neurodegeneration in patients with the C9orf72 genetic mutation, which is associated with conditions like amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The study examines how changes in nerve cell activity, particularly as patients age, may contribute to the progression of these diseases. By using patient-derived induced pluripotent stem cells and animal models, researchers aim to uncover the mechanisms behind neuronal excitability and its impact on neurotoxicity. This could lead to new insights into how these conditions develop and progress over time.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with ALS or FTD, particularly those with the C9orf72 genetic mutation.
Not a fit: Patients without the C9orf72 mutation or those with other forms of neurodegeneration may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that slow down or prevent the progression of ALS and FTD in affected patients.
How similar studies have performed: Previous research has shown promising results in understanding the mechanisms of neurodegeneration related to C9orf72, indicating that this approach has potential for significant findings.
Where this research is happening
Philadelphia, United States
- Thomas Jefferson University — Philadelphia, United States (Active)
Researchers
- Principal investigator: Haeusler, Aaron Raymond — Thomas Jefferson University
- Study coordinator: Haeusler, Aaron Raymond
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.