Understanding genetic causes of nerve diseases and exploring treatments
Official title: The Genetics of the Neuromuscular Junction: Mechanisms and Disease Models
Funded at Jackson Laboratory · NIH-11143295 · Data updated 2026-11-12
This study is looking into how certain genetic changes in tRNA synthetase genes cause inherited nerve problems like Charcot-Marie-Tooth disease, and it aims to find new ways to help with symptoms through treatments that patients might be able to try.
Quick facts
| Grant type | R37 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project start | June 1, 2024 |
| Project end | May 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $784,528 |
| NIH project number | 5R37NS054154-16 |
| Project ID | NIH-11143295 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for participation include individuals diagnosed with Charcot-Marie-Tooth disease or related inherited peripheral neuropathies.
✕Less likely to help
Patients with non-genetic forms of peripheral neuropathy or those without a diagnosis of CMT may not benefit from this research.
What this research studies
This research investigates genetic mutations in tRNA synthetase genes that lead to inherited peripheral neuropathy, particularly focusing on Charcot-Marie-Tooth disease (CMT). The team aims to uncover the biochemical and cellular mechanisms behind these mutations and their specific effects on motor and sensory neurons. By utilizing mouse models, they will explore potential pharmacological and gene therapy treatments to alleviate symptoms. Patients may have the opportunity to contribute to this research through genetic analysis and treatment trials.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients suffering from inherited peripheral neuropathies.
How similar studies have gone: Previous research has shown promise in understanding genetic causes of peripheral neuropathies and developing targeted therapies, indicating a potential for success in this area.
Where this research is happening
-
Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Burgess, Robert W. — Jackson Laboratory
- Study coordinator: Burgess, Robert W.
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.