TRANSLATIONAL RESEARCH IN THE DYSTROPHINOPATHIES

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。我们开发了一种从全血DNA样本中检测dystrophin基因突变的新方法，该方法将成为基因诊断的标准方法。这些突变是X连锁疾病Duchenne和Becker肌营养不良(DMD&BMD)的原因，统称为营养不良。我们对一大群营养不良患者进行突变分析；对所有患者进行标准化的临床检查；并维护一个连接突变(基因序列)信息和检查数据的大型数据库。这些数据将提供给参与研究的人员，用于旨在了解疾病分子发病机制的研究，或用于改进治疗。犹他州多中心营养不良症项目的主要目标是建立一个大规模的基因/表型数据库和患者登记。三个站点的注册正在进行中，明年还会有更多的站点加入，目的是实现我们的确定目标。

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..