MDA has awarded a research grant totaling $353,679 to James Dowling, assistant professor in the departments of pediatrics and neurology at the University of Michigan Medical Center in Ann Arbor. The funds will help support Dowling's research into potential therapies for myotubular myopathy (MTM).

For his latest line of research, Dowling has partnered with Christopher Pierson, an assistant professor in the department of neuropathology at Nationwide Children's Hospital in Columbus, Ohio.

Recently the two identified abnormalities in a part of the muscle called the neuromuscular junction (NMJ), the meeting point of nerve cells and muscle fibers, in a model of MTM. They also found that treatment targeted to the NMJ greatly improved function in the model.

Now, using a research mouse model of MTM, the study team will examine the relationship between the NMJ and the disease. In addition, the investigators will test a commonly used NMJ-modifying drug in the model to determine whether it affects disease progression.

Findings from this work are expected to significantly advance understanding of the MTM disease process, and may lead directly to treatment for people with the disease.

"MDA has been and continues to be a critical funding source for my research," Dowling said. "My work in this area of study started with support from the MDA in the form of an MDA development grant. Using the funding from that grant, I was able to make major inroads in terms of our understanding of MTM. This work also provided the relevant data from which the hypothesis for our new study evolved.

"We believe the results of this study, funded by the MDA, will lead to the first therapy for MTM."

Funding for this MDA grant began February 1, 2011.