Charcot-Marie-Tooth Disease (CMT)

CMT - Robert Baloh, M.D., Ph.D.

Robert Baloh, associate professor-in-residence in the department of neurology at the University of California, Los Angeles, has been awarded an MDA research grant totaling $300,000 over three years to study the molecular mechanism of type 2A Charcot-Marie-Tooth disease (CMT) due to mutations in the Mitofusin 2 (MFN2) gene. Baloh has developed a new mouse model that he will use in his research to test whether gene therapy with a gene called MFN1 could serve as a therapeutic approach.

CMT - Aaron DiAntonio, M.D., Ph.D.

Alan A. and Edith L. Wolff Professor of Developmental Biology Aaron DiAntonio at Washington University school of Medicine in St. Louis was awarded an MDA research grant totaling $300,000 over three years to identify novel targets to block nerve degeneration in Charcot-Marie-Tooth disease (CMT). DiAntonio will perform a genetic screen in fruit flies to identify genetic suppressors of nerve degeneration and then test these targets in human nerve cells in a dish.

CMT - Robert Burgess, Ph.D.

Robert Burgess, a professor at The Jackson Laboratory in Bar Harbor, Maine, has been awarded an MDA research grant totaling $300,000 over three years. Burgess and co-investigator Scott Harper, associate professor at Nationwide Children’s Hospital Center for Gene Therapy in Columbus, Ohio, will test an AAV gene therapy approach to specifically block the altered form of the GARS gene in a newly developed mouse model for type 2D Charcot-Marie-Tooth disease (CMT).

CMT - Daniel Summers, Ph.D.

Daniel Summers, a postdoctoral research scholar in the department of genetics at Washington University School of Medicine in St. Louis, was awarded an MDA development grant totaling $180,000 over three years to investigate how activation of a protein called SARM leads to the loss of metabolites that are essential for the health of peripheral nerves in Charcot-Marie-Tooth disease (CMT).

CMT/DSD - Kelly Monk, Ph.D.

Kelly Monk, an assistant professor of developmental biology at Washington University in St. Louis, was awarded an MDA research grant totaling $253,800 over three years to investigate a possible therapeutic avenue for treating Charcot-Marie-Tooth disease (CMT)  and the related Dejerine-Sottas disease (DSD).

CMT - Elisabetta Babetto, Ph.D.

Elisabetta Babetto, a postdoctoral research scholar at Washington University in St Louis, was awarded an MDA research development grant totaling $152,280 over three years to study the possible role of a protein called PHR1 in degeneration of nerve fibers in Charcot-Marie-Tooth disease (CMT).  In experiments in mice with a CMT-like disorder, Babetto will see whether manipulating the biochemical pathway associated with the PHR1 protein can improve the health of nerve fibers.

CMT - Ludo Van Den Bosch, Ph.D.

Ludo Van Den Bosch, a professor in the Department of Neurosciences at KU Leuven in Leuven, Belgium, was awarded an MDA research grant totaling $235,020 over three years to study the type 2F form of Charcot-Marie-Tooth disease (CMT) and investigate a possible treatment for it.  Van Den Bosch and colleagues will conduct experiments in mice with a disorder mimicking human CMT2F, which have been shown to benefit from treatment with a compound known as a histone deacetylase 6 (HDAC6) inhibitor.

CMT - Anthony Antonellis, Ph.D.

Anthony Antonellis, an assistant professor of human genetics and neurology at the University of Michigan in Ann Arbor, was awarded an MDA research grant totaling $253,800 over three years, to study how mutations in genes that code for specific enzymes cause Charcot-Marie-Tooth disease (CMT).

CMT - Michael Shy, M.D.

Michael Shy, a professor of neurology and pediatrics at the University of Iowa, has been awarded an MDA research grant totaling $253,800 over three years to develop a clinical trial to test a treatment for patients with the type 1B form of Charcot-Marie-Tooth disease (CMT). Based on previous MDA-supported work in mice with a CMT1B-like disorder, Shy and colleagues believe that treating a cellular phenomenon called the ER stress response may help CMT1B patients.

CMT - Nivedita Jerath, M.D.

Nivedita Jerath, a clinical fellow in neuromuscular medicine at the University of Iowa, has been awarded an MDA clinical research training grant to study driving ability in patients with the type 1A form of Charcot-Marie-Tooth disease (CMT). Because of difficulties with strength and balance, as well as foot abnormalities and tight ankles, the disease may affect driving, which requires quick responses, such as slamming on the brakes or turning the steering wheel quickly.

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