Biological Sciences Associate Professor Michael Garcia and Chris Lorson, a professor of veterinary pathobiology and molecular microbiology and immunology, have received a 1-year, $200,000 grant from the Charcot-Marie-Tooth (CMT) Research Foundation to develop a precision medicine approach for CMT disease type 2E.
CMT is the most commonly inherited peripheral neuropathy, affecting an estimated 150,000 people in the U.S, according to the National Institutes of Health. It comprises a group of progressive disorders caused by mutations in genes that affect the normal function of peripheral nerves, resulting in weakness, numbness, muscle cramps and movement problems in legs and arms. The CMT type 2 form of the disease is linked to mutations in genes that affect axons, and people with CMT type 2E have a mutation in the neurofilament light gene (nefl) that causes an abnormal neurofilament light protein (NF-L).
For the project, Garcia and Lorson will develop and test a new gene therapy approach that will both silence the abnormal gene and simultaneously replace it with genetic material that will produce normal protein. The research team will test this approach in two well-studied animal models of CMT2E. While the studies will be carried out in mice, the long-term goal is to use genetic material from humans using an FDA-approved vehicle for delivering genetic therapies.
“Dr. Lorson and I are grateful for the generous support provided by the CMT Research Foundation,” said Garcia. “We are excited to be a part of the development of what may be the first ever treatment for CMT2E.”
While the Lorson lab will develop the therapeutic intervention, Garcia will provide expertise on neurofilaments, axon structure, and CMT2E and assist with the analysis of disease pathogenesis in the new model and in both models once the therapeutic has been delivered. Garcia brings 15 years of expertise and research on CMT, including development of CMT animal models that have provided insight into the role of NF-L during disease development.
This is the fourth award the Garcia lab has received for CMT research, three from the CMT Association and this new grant from the CMT Research Foundation, which sponsors scientific research to advance knowledge about all types of CMT with potential translational applications.
The project aligns well MU’s NextGen Precision Health Initiative, which aims to translate fundamental research from laboratories to effective treatments and devices to the benefit of all Missourians as well as the rest of the world.