Investigating the role of KIF5A gene mutations in ALS
Official title: Pathogenic mechanisms of KIF5A-associated ALS
Funded at Emory University · NIH-11168202 · Data updated 2026-11-12
This study is looking at how changes in a specific gene called KIF5A might lead to ALS, using mice and special cells to learn more about how these changes affect nerve cells, with the hope of finding new ways to help people with ALS.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project start | May 1, 2025 |
| Project end | April 30, 2030 |
| Funding year | 2025 |
| Award (this year) | $532,381 |
| NIH project number | 1R01NS138605-01A1 |
| Project ID | NIH-11168202 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with ALS, particularly those with known KIF5A mutations.
✕Less likely to help
Patients with ALS who do not have KIF5A mutations may not benefit directly from this research.
What this research studies
This research focuses on understanding how mutations in the KIF5A gene contribute to the development of Amyotrophic Lateral Sclerosis (ALS). The study uses transgenic mice and induced pluripotent stem cells to explore the molecular mechanisms behind the disease, particularly how the KIF5AΔE27 variant affects motor neuron function and transport processes. By examining age-related changes and the impact on RNA metabolism, the research aims to uncover potential therapeutic targets for ALS. Patients may benefit from insights gained into the disease's progression and potential new treatment strategies.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic approaches for ALS patients by targeting the underlying mechanisms of the disease.
How similar studies have gone: Previous research has shown promising results in understanding ALS mechanisms through genetic studies, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Emory University
Atlanta, United States Active
Researchers
- Principal investigator: Jiang, Jie — Emory University
- Study coordinator: Jiang, Jie
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.