Exploring how stress responses affect a type of inherited nerve disease.
Official title: Understanding the Role of the Integrated Stress Response in tRNA Synthetase-associated Charcot-Marie-Tooth Disease
Funded at Jackson Laboratory · NIH-10886807 · Data updated 2026-11-12
This study is looking into how certain gene changes in people with Charcot-Marie-Tooth disease affect nerve health and may lead to new ways to help treat the condition.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project start | August 1, 2023 |
| Project end | July 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $122,201 |
| NIH project number | 5K99NS130151-02 |
| Project ID | NIH-10886807 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Charcot-Marie-Tooth disease, particularly those with mutations in tRNA synthetase genes.
✕Less likely to help
Patients with forms of Charcot-Marie-Tooth disease not associated with tRNA synthetase mutations may not benefit from this research.
What this research studies
This research investigates the mechanisms behind Charcot-Marie-Tooth disease (CMT), a common inherited disorder affecting the peripheral nervous system. It focuses on mutations in tRNA synthetases that disrupt protein synthesis, leading to nerve degeneration. The study aims to understand how these mutations activate a stress response in cells, which may contribute to the disease's progression. By examining the role of specific proteins involved in this response, researchers hope to uncover new insights into CMT and its treatment.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for managing or treating Charcot-Marie-Tooth disease.
How similar studies have gone: Previous research has shown promising results in understanding the mechanisms of similar inherited nerve disorders, suggesting potential for success in this area.
Where this research is happening
-
Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Hines, Timothy — Jackson Laboratory
- Study coordinator: Hines, Timothy
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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.