Understanding how KIF5A mutations contribute to ALS and FTD
Official title: Mechanisms of Neurodegeneration in KIF5A ALS/FTD
Funded at University of Pittsburgh at Pittsburgh · NIH-11160063 · Data updated 2026-11-12
This study is looking at how changes in a specific gene called KIF5A might contribute to conditions like ALS and Frontotemporal Dementia, using special lab techniques to see how these changes affect nerve cell health, with the hope of finding better ways to understand and treat these diseases.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project start | August 1, 2023 |
| Project end | July 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $208,170 |
| NIH project number | 7K08NS130146-02 |
| Project ID | NIH-11160063 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with ALS, particularly those with a family history of KIF5A mutations or related neurodegenerative conditions.
✕Less likely to help
Patients with ALS who do not have KIF5A mutations or those with other unrelated neurodegenerative diseases may not benefit from this research.
What this research studies
This research investigates the role of KIF5A mutations in the development of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). By utilizing human-derived motor neurons and mouse models, the study aims to explore how these mutations affect the transport of cellular components and the regulation of the cytoskeleton. The researchers will employ advanced imaging techniques and biochemical assessments to analyze the impact of these mutations on neuronal function and health. This work seeks to uncover common mechanisms that may lead to better understanding and treatment of these neurodegenerative diseases.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapies for patients suffering from ALS and FTD.
How similar studies have gone: Previous research has shown promising results in understanding the genetic underpinnings of ALS and FTD, suggesting that this approach could yield valuable insights.
Where this research is happening
-
University of Pittsburgh at Pittsburgh
Pittsburgh, United States Active
Researchers
- Principal investigator: Brent, Jonathan Robert — University of Pittsburgh at Pittsburgh
- Study coordinator: Brent, Jonathan Robert
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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.