Understanding the causes of Charcot-Marie-Tooth disease type 1G
Official title: Exploring the Pathophysiology of CMT1G
Funded at Albany Medical College · NIH-11036374 · Data updated 2026-11-12
This study is looking at a specific gene change that causes Charcot-Marie-Tooth disease type 1G, which affects your nerves and can lead to muscle weakness and pain, and researchers are using special technology to create mice that can help us learn more about how this gene change impacts nerve function and could lead to better treatments.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albany Medical College NIH-funded |
| Lab location | 1 site (Albany, United States) |
| Project start | March 1, 2024 |
| Project end | February 28, 2026 |
| Funding year | 2025 |
| Award (this year) | $81,750 |
| NIH project number | 5R03NS136069-02 |
| Project ID | NIH-11036374 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Charcot-Marie-Tooth disease type 1G, particularly those with the specific Pmp2 gene mutation.
✕Less likely to help
Patients with other forms of Charcot-Marie-Tooth disease or unrelated neurological disorders may not benefit from this research.
What this research studies
This research investigates Charcot-Marie-Tooth disease type 1G (CMT1G), a common inherited neurological disorder that affects the peripheral nerves, leading to muscle weakness and pain. The study focuses on a specific mutation in the Pmp2 gene that causes this condition. Using advanced CRISPR/Cas9 technology, researchers will create a mouse model to explore how this mutation affects protein folding and nerve function. The goal is to better understand the underlying mechanisms of the disease, which could inform future treatments.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapies for patients suffering from CMT1G.
How similar studies have gone: Previous research has shown promise in understanding other types of Charcot-Marie-Tooth disease using similar genetic approaches, indicating potential for success in this area as well.
Where this research is happening
-
Albany Medical College
Albany, United States Active
Researchers
- Principal investigator: Belin, Sophie — Albany Medical College
- Study coordinator: Belin, Sophie
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.