Investigating the genetics of Charcot-Marie-Tooth disease
Genomic Studies in Charcot-Marie-Tooth Disease
This study is looking for new genes that might cause Charcot-Marie-Tooth disease (CMT) by working with families affected by the condition, which could help improve diagnosis and treatment options for those living with CMT.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Miami School of Medicine NIH-funded |
| Lab location | 1 site (Coral Gables, United States) |
| Project ID | NIH-10669035 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic factors contributing to Charcot-Marie-Tooth disease (CMT), a group of inherited peripheral neuropathies. By utilizing advanced techniques like exome and whole genome sequencing, the study aims to identify additional genes responsible for the axonal subtype of CMT, which currently has a significant number of undiagnosed cases. The research involves collaboration with families affected by CMT to gather genetic data and perform comprehensive analyses to uncover new genetic variations. This approach could lead to better diagnostic tools and potential treatments for patients with CMT.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Charcot-Marie-Tooth disease, particularly those with the axonal subtype who have not yet received a genetic diagnosis.
Not a fit: Patients with Charcot-Marie-Tooth disease who have already been genetically diagnosed or those with other unrelated conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and targeted therapies for patients with Charcot-Marie-Tooth disease.
How similar studies have performed: Previous research has successfully identified numerous genes associated with CMT using similar genomic approaches, indicating a promising avenue for further discoveries.
Where this research is happening
Coral Gables, United States
- University of Miami School of Medicine — Coral Gables, United States (Active)
Researchers
- Principal investigator: Zuchner, Stephan — University of Miami School of Medicine
- Study coordinator: Zuchner, Stephan
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 below.