Stephan Züchner, M.D., Ph.D., professor and chair of the Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami Miller School of Medicine, has received a research infrastructure grant from the Muscular Dystrophy Association (MDA). The prestigious award, totaling $163,920 over three years, is one of 15 MDA grants to bolster research focused on a variety of neuromuscular diseases.
The funds will allow Dr. Züchner to build a genomic database for Charcot-Marie-Tooth (CMT) disease. The database will expand the availability of resources to streamline gene identification and therapy development for CMT, providing new collaboration opportunities for scientists and better clinical trials. Ultimately, Dr. Züchner hopes this will result in better treatment options for patients with the disease.
CMT, a slowly progressing disease of the peripheral nerves, affects more than 3 million people worldwide, according to the MDA. The most common inherited peripheral neuropathy, CMT causes varying degrees of muscle weakness and atrophy among different types of the condition.
“CMT is a rare disease, with patients scattered all over the country and the world,” said Dr. Züchner, who also is co-director of the John P. Hussman Institute for Human Genomics. “For scientists to be able to study this disease in a meaningful way, it would be critical to examine data from thousands of patients. That’s not possible for any one scientist because the data just isn’t available in an organized fashion. If we can bring the genetic data together into one database, scientists can use it to facilitate stronger analysis, organize clinical trials, and hopefully grow our knowledge about the condition.”
More than 40 percent of people with CMT do not have a confirmed genetic diagnosis, and there is no cure for the disease. Making genetic data available to researchers around the world may improve diagnostic processes, guide functional studies and drug discovery, and build the foundation for a patient selection process that is urgently needed for well-designed CMT clinical trials.
A team led by Dr. Züchner recently discovered that mutations in the sorbitol dehydrogenase gene cause a type of CMT that may respond to treatment. This discovery was made possible by the Inherited Neuropathy Consortium, a network of clinical investigators, patient support organizations, and academic medical centers co-founded by Dr. Züchner. The consortium follows patients with these conditions and shares genetic, neurophysiological, and clinical data to help scientists better understand inherited neuropathies. Dr. Züchner hopes the CMT genomic database can expand to eventually include 10,000 genome data sets.
“The results of our recent study show how we can go from genetic discovery to treatment trials in short order,” Dr. Züchner said. “This is an ambitious goal, but if we can reach that, we can achieve amazing breakthroughs in clinical diagnostics and treatment.”