Vanderbilt University faculty, staff and postdoctoral fellows attended the 2023 CMT Global Research Convention in Cambridge, Massachusetts, in September to share research updates and provide education to patients on Charcot-Marie-Tooth disease and to discuss best practices for translating research from bench to market.
CMT disease is a degenerative nerve disease that causes muscle weakness and atrophy in the arms, legs, hands and feet. As the most common hereditary neuropathy, it affects one in 2,500 people. Vanderbilt researchers Bruce Carter, associate director of the Vanderbilt Brain Institute and professor of biochemistry, and Charles Sanders, vice dean of the School of Medicine Basic Sciences, associate dean for research and professor of biochemistry, have been collaborating for years to understand and cure CMT disease. Carter serves on the CMTRF Scientific Advisory Board.
“The CMTRF Scientific Advisory Board has guided the foundation to form their strategic research priorities to fund,” Carter said. “CMTRF has actively gone into academia and industry to identify and fund research aligned with this strategy, and it is starting to pay off. After only five short years since they were founded, 20 projects have been funded, five of which now have clinical candidates advancing with industry.”
At the convention’s Patient Community Day, Carter presented to patients and families on CMT types, focusing on those affected by PMP22. On the scientific day of the conference, Margaret Read, Vanderbilt’s Center for Technology Transfer and Commercialization general manager for corporate alliances, moderated the panel “Translating Academic Science to Business.”
At the conference, Katherine Stefanski, a postdoctoral research scientist in the Sanders lab, won best poster for her work, “High-throughput screening to identify modulators of raft formation and PMP22 raft affinity in giant plasma membrane vesicles.”
“The opportunity to engage with patients at the conference was exceptionally motivational. Patients were on the podium both days to raise awareness of their needs and engage in the scientific dialogue,” Read said. “Vanderbilt researchers are clearly at the forefront among institutions addressing challenges for developing therapies to cure CMT disease.”
CMT disease research at Vanderbilt
In 2020, Justin Marinko, PhD’21, Carter and Sanders published research announcing discovery of a mechanism contributing to CMT disease. “Discovering this relatively new phenomenon was an important step and a highlight for our lab,” Sanders said at the time. “I am thrilled about the future of this work with our friends in the Carter Lab, translating our data and model cell line work to nervous system cells.”
Since then, the CMT Research Foundation has invested in further research at Vanderbilt focused on addressing the problem of overproduction of PMP22, the primary genetic cause of CMT in patients with CMT disease type 1A. Sanders and Carter are co-primary investigators on the project. In addition to CMTRF funding, aspects of their research are supported by Ancora Innovation, a company wholly owned by affiliates of Deerfield Management that supports Vanderbilt’s life science research and leverages Deerfield’s expertise in accelerating drug development.