Genetics of the Neuromuscular Junction: Disease Mechanisms and Treatment Approaches
Official title: The Genetics of the Neuromuscular Junction: Mechanisms and Disease Models
Funded at Jackson Laboratory · NIH-11345911 · Data updated 2026-11-12
Researchers are studying how certain tRNA synthetase mutations cause inherited nerve disease and testing potential drug and gene therapies to help people with Charcot–Marie–Tooth disease.
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 | 2026 |
| Award (this year) | $1,032,326 |
| NIH project number | 5R37NS054154-17 |
| Project ID | NIH-11345911 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with inherited peripheral neuropathies linked to tRNA synthetase mutations, or those at risk due to family history, could be candidates for future trials or related therapies.
✕Less likely to help
Individuals without the specific tRNA synthetase mutations or related CMT forms may not benefit from this research.
What this research studies
This project looks at dominant mutations in tRNA synthetase genes that cause peripheral neuropathy and aims to uncover why motor and sensory nerves are particularly affected. Researchers will explore the biochemical and cellular basis of these diseases and test pharmacological and gene therapy strategies in models, including mouse systems. The work builds on findings that link mutant glycyl- and tyrosyl-tRNA synthetases to nerve degeneration via stress-response pathways and ribosome dynamics. By clarifying how mutant enzymes interact with tRNA substrates and how this leads to neuron-specific damage, the team hopes to identify targets for treatment. The project combines molecular biology, cellular studies, and preclinical testing to move toward therapies for CMT-related neuropathies.
Why it matters
Potential benefit: If successful, the research could lead to new treatments that reduce nerve damage and improve function for people with certain forms of Charcot–Marie–Tooth disease.
How similar studies have gone: Prior studies in mouse models suggest that manipulating stress pathways can modify disease severity, supporting potential translational progress.
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.