Department of Neuromuscular Research aims to elucidate pathomechanism of neuromuscular disorders and to develop therapy for the diseases. We focus on hereditary muscular disorders, including muscular dystrophies and distal myopathies. We study the diseases using a wide range of approaches including clinical medicine, molecular pathology, molecular genetics, and cell biology.
We are actively involved in the activities of World Muscle Society, European Neuromuscular Centre, and Japanese-French Workshop for Muscular Dystrophies. We are one of the original executive board members of Asian and Oceanian Myology Centre (AOMC), which was established in January 2001 to encourage and facilitate collaborative research in the Eastern hemisphere into neuromuscular disorders being stimulated by the success of European Neuromuscular Centre.
Our department functions as a diagnostic center for neuromuscular disorders in Japan, in collaboration with the Molecular Diagnostic Laboratory in National Hospital for Mental, Nervous and Muscular Disorders. We are mainly involved in the pathological diagnosis on a wide variety of muscle diseases and the DNA analyses on several hereditary neuromuscular disorders including facioscapulohumeral muscular dystrophy. We currently process 400-500 muscle pathology specimens per year collected from all over Japan. In our department, all the tests are performed only when signed informed consent documents, which have been acknowledged by the Ethical Committee at National Center of Neurology and Psychiatry, are attached to the samples.
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