CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASES

这个临床研究中心，现在在21年，一直关注 与人类神经肌肉疾病有关。 董事会的目标是 阐明这些疾病的病因和发病机制， 要么为目前无法治愈的疾病设计合理的治疗方法， 条件或提供信息，可以指导健全的遗传 辅导 重点在不同时期有所转移， 格兰特，但我们专注于人类患者。 当前 该计划包括两个主要主题：线粒体 脑肌病和自身免疫性运动神经病。 中心 调查人员在这两个领域都很活跃， 合作多年。 这是三个项目。 项目1 Bonilla和Schon将研究肌肉和大脑中的mtDNA缺失， 使用形态学和遗传学相结合的方法，包括 新的基于PCR的方法。 项目2国王和米兰达将 线粒体DNA突变的基因型-表型关系研究 新的有丝分裂后组织培养系统。 项目3拉托夫，李， 海斯将研究暴露于 空肠弯曲菌可能激活特定的“记忆”B细胞， 识别细菌复合寡糖，导致 使用转基因小鼠产生致病性自身抗体 技术是关键组成部分。 临床核心DiMauro和 罗兰将提供方向，行政，外部 会诊、临床协调、共享技术服务， 整个项目。 一如既往，我们鼓励 基础和临床科学家之间的合作。

This Clinical Research Center, now in Year 21, has been concerned with human neuromuscular diseases. The board objective is to elucidate the etiology and pathogenesis of these disorders, in order to either devise rational treatments for presently untreatable conditions or provide information that could guide sound genetic counseling. The emphasis has shifted in different periods of the grant, but we have concentrated on human patients. The current program includes two main themes: mitochondrial encephalomyopathies and autoimmune motor neuropathies. Center investigators have been active in both fields and have been collaborating for many years. These are three projects. Project 1 Bonilla and Schon will study mtDNA deletions in muscle and brain, using combined morphological and genetic approaches, including novel PCR-based methodologies. Project 2 King and Miranda will study genotype-phenotype relationships of mtDNA mutations in a novel, post-mitotic tissue culture system. Project 3 Latov, Lee, and Hays will study mechanisms by which exposure to Campylobacter jejuni may activate specific 'memory' B cells which recognize the bacterial complex oligosaccharides, resulting in production of pathogenic autoantibodies, using transgenic mouse technology as a key component. A clinical core DiMauro and Rowland will provide direction, administration, external consultation, clinical coordination, and share technical service to the project as a whole. As always, we have encouraged collaboration between the basic and clinical scientists.