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.

CMT - Gavriel David, M.D., Ph.D.

Gavriel David, an associate professor of physiology and biophysics at the University of Miami’s Miller School of Medicine in Florida, has been awarded an MDA research grant totaling $253,800 over three years to study calcium overload in nerve cells in Charcot-Marie-Tooth disease (CMT).

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

What! Stairs, Stairs and More Stairs!

Artist: 

Milda is an award-winning professional artist, designer and instructor. She taught art for 16 years, illustrates children's books and has published two books of humorous drawings. Due to CMT, climbing stairs has been very difficult for Milda for many years. She has created a series of prints all related to the topic of stairs. Milda has donated four other pieces of artwork to the Collection.

Thunder

Alex was born in Uglich, Russia, and was adopted by Becky and Marshall Gravdahl. His mother is an artist and he began creating art in a variety of materials along with his brother Pasha, also from Russia. Alex also enjoys photography and playing the piano which he began at age 3. He has won numerous awards for his artwork and photography at local fairs and festivals. He is currently selling a CD of his piano performances and selling his artwork in hopes of raising one million dollars for MDA.

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