TRANSLATIONAL RESEARCH IN THE DYSTROPHINOPATHIES

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 建立一套有关大量经临床诊断的营养不良症患者的登记册和资料库，以包括：营养不良基因突变；可靠的表型资料，前瞻性和纵向收集；病程、治疗和反应的历史数据；个别家庭的联系资料，以及他们对家庭是否希望获知患者有资格参加临床试验的反应；患者肌肉中肌营养不良蛋白表达的信息；为有可能携带营养不良蛋白基因突变的女性亲属提供携带者检测；18岁以下和有症状的女性亲属，以确定症状为显性携带者；为患者和携带者的家属提供关于他们突变状态的遗传咨询；建立一个全球研究人员都可以访问的dystrophin基因多态和突变数据库，包括多态频率。

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. To develop a registry of and database of information regarding a large cohort of patients with clinically-diagnosed dystrophinopathies to include: dystrophin gene mutation; reliable phenotypic information, gathered prospectively and longitudinally; historical data on disease course, treatment, and response; contact information for individual families, and their response as to whether or not the family wishes to be notified of clinical trials for which the patient is eligible; information on dystrophin protein expression in muscle from patients; to provide carrier testing to female relatives who are at risk of carrying a dystrophin gene mutation and are age 18 and greater who are asymptomatic; younger than age 18 and symptomatic, to confirm the symptoms as representing a manifesting carrier state; to provide genetic counseling to families of patients and carriers regarding their mutation status; to establish a database of dystrophin gene polymorphisms and mutations, including frequencies of polymorphisms, accessible to researchers worldwide.