dowlingJames Dowling, M.D., Ph.D.

Frances and Kenneth Eisenberg Emerging Scholar

Assistant Professor of Pediatrics and Communicable Diseases and Neurology

Director, Muscular Dystrophy Clinic

Research Aimed at Helping Our Greatest Treasure — Children

Muscle diseases can be devastating to the health and growth of afflicted children. These diseases, called myopathies, can delay the children’s ability to sit, speak and walk. Some remain confined to a wheelchair for life.

James Dowling is beginning to unlock biological mechanisms of one such disease — myotubular myopathy — an inherited disease with severe symptoms whose origins are poorly understood. His team is advancing the understanding of and treatments for myotubular myopathy and other inherited child muscle diseases.
Says Dowling, the Frances and Kenneth Eisenberg Emerging Scholar within the A. Alfred Taubman Medical Research Institute, “This [Institute’s] vision of allowing researchers to focus on our work with the goal of saving and improving the lives of our patients has the potential to solve a critical problem for researchers at the University of Michigan.”

He leads a team of researchers in the development of an animal model of disease using zebrafish. They have created a line of zebrafish with unique abnormalities in a section of the muscles called the tubulorecticular system, which is vital for normal muscle contraction.

“Our study is the first to identify a potential mechanism to explain the clinical features of myotubular myopathy,” he says. “From there, we can test out new treatments for this and other similar muscle diseases.”

 


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