TRANSLATIONAL RESEARCH IN THE DYSTROPHINOPATHIES

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. We have developed a novel method of detecting mutations in the dystrophin gene from whole blood DNA samples, which will become the standard method of genetic diagnosis. These mutations are causative for the X-linked disorders Duchenne and Becker Muscular Dystrophy (DMD & BMD), known collectively as the dystrophinopathies. We perform mutation analysis on a large cohort of dystrophinopathy patients; obtain a standardized clinical examination on all patients; and maintain a large database of linking mutational (gene sequence) information and examination data. These data will be available to participating investigators for use in studies directed toward understanding the molecular pathogenesis of disease, or toward improved treatments. The Multicenter Utah Dystrophinopathy Project has emerged with the primary goal of establishing a large scale genotype/phenotype database and patient registry. Enrollment is ongoing at three sites with additional sites joining in the coming year with the objective of reaching our ascertainment goals..