"An open Charcot-Marie-Tooth genetics data resource could help expedite CMT research, from gene identification to drug discovery and development."
Stephan Zuchner, M.D., Ph.D., chairman of the Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami School of Medicine in Florida, was awarded an MDA research infrastructure grant totaling $384,967 over three years to expand and make more widely available resources to streamline gene identification and therapy development efforts for Charcot-Marie-Tooth disease (CMT).
Approximately 40 percent of people with CMT do not have a confirmed genetic diagnosis, highlighting the need for a continued focus on gene identification efforts for CMT. Since the most common causative genes for CMT have already been identified, there exists a need for genetic analysis across larger cohorts of patients to find rare causes of disease. In collaboration with the Inherited Neuropathy Consortium, Dr. Zuchner has developed a genomic data infrastructure platform. This open CMT genetics data resource allows for aggregation, archiving, analysis, comparison and sharing of genetic data among many laboratories and institutions.
The resource will accelerate CMT research from gene identification to therapy discovery and development. Making such data available to CMT researchers in the United States and around the world could improve diagnostic processes, guide functional studies and drug discovery, and build the foundation for the patient selection process necessary for well-designed clinical trials.
https://doi.org/10.55762/pc.gr.140810
Grantee: Data Resource for CMT Genomics - Stephan Zuchner, MD, PhD
Grant type: Infrastructure Grant
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