Mayo Clinic is uniquely suited to efficiently access and integrate data because the patient care mission of Mayo Clinic provides researchers so much access to many forms of medical information, according to Dr. Selcen. These forms of information include clinical observation of patients, analysis of diseased and healthy tissue samples, as well as genetic and molecular investigations.
The discovery of zaspopathy is also important because it supports the "candidate gene" approach for finding mutations that can cause human disease. "In this approach, we select specific genes to examine based on a detailed knowledge of how a disease affects a particular part of the body," says Andrew Engel, M.D., a Mayo Clinic neurologist who worked on the project. Dr. Engel explains that the results with zaspopathy show the usefulness of the candidate gene in speeding up and simplifying the search for therapies and cures.
About Muscular Dystrophy
Muscular dystrophy is a group of rare inherited muscle diseases in which muscle fibers are unusually susceptible to damage. The different forms of the disease are distinctive in the inheritance pattern, primary muscles and genes affected, and prognosis, according to the National Institute of Neurological Disorders and Stroke
Disability caused by muscular dystrophy falls on a continuum from mild weakness and loss of strength to premature death, usually in the 20s. In most forms of muscular dystrophy, it is primarily the muscles that control movement that become progressively weaker. However, in some types of muscular dystrophy, heart and other involuntary muscles and other organs are also affected. While there is no cure, various therapies, medications or orthopedic surgeries can slow the
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