Stephen Züchner, associate professor of human genetics and neurology at the University of Miami Miller School of Medicine in Florida, was awarded an MDA research grant totaling $390,000 over three years to identify genes responsible for Charcot-Marie-Tooth disease (CMT).
"Genetic research over the past 25 years has identified more than 50 different CMT genes,” Züchner explains. “While the subtype CMT1 is largely explained by these genes, CMT2 and a number of other subtypes of CMT are less well-understood.”
It’s thought that many more genes need to be found to explain the majority of CMT found in people with the disease, but a new generation of DNA sequencing machines — called next-generation sequencers — is making that endeavor much easier and cheaper
“We have been pioneering the application of these new instruments for neuromuscular and other diseases,” Züchner says, “and have already identified and published multiple novel genes using this approach in a number of diseases.”
In his new work, Züchner and colleagues are focused on identifying additional genes that cause CMT.
“We believe that the more genes we know, the better will be our understanding of gene networks that work together in a process that leads to disease,” Züchner says. “Instead of focusing on a single gene, there will be benefits in understanding the entire disease process.”
Such understanding may lead to development of therapies that, instead of targeting a specific gene, influence gene networks or pathways — meaning a single treatment could help people with mutations in different genes.
Funding for this MDA grant began Aug. 1, 2012.