Clinical Core

引言 这项提案是对这项赠款申请的项目的核心支持，目的是 早发性扭转肌张力障碍的分子病因学和病理生理学研究 将该临床中心建立/转化为与肌张力障碍相关的国际资源 调查。集中化的核心服务对于每个 具体项目是协调有效地实现总体目标所不可或缺的 项目目标。这一核心的功能包括患者招募、招募和表型 鉴定、人类组织收集/细胞系建立和基因分析； 数据库维护和扩容。以确保该信息最容易获得 对于全国各地的同仁，我们将建立一个基于网络的数据库，其中包含身份识别 所有参与研究并同意的肌张力障碍受试者的信息 与世界各地的调查人员分享他们的信息。以确保那些拥有 家族性肌张力障碍受到保护，有关先证者的未确认临床信息将仅被 在基于网络的数据库中输入。有关主体身份保护的更多详情，请参阅 研究设计和方法部分。这些信息和对患者/家属的访问 样本将允许其他团队推进对人类肌张力障碍的研究。包括在 这一核心的一部分是两项人类先导性研究，旨在探索TOR1A基因和 肌张力障碍发生过程中的突变型TorsinA蛋白。应该取得积极的结果吗？ 无论是这两项试点研究，它们都可能在未来得到扩展。此外，这些都有很好的特点 患者和材料将可用于未来的临床试验和分子 基因研究是基于在各种项目中获得的新见解而开发的 在这项中心拨款中所描述的。

INTRODUCTION This proposal is for core support for the projects of this grant application directed towards elucidation of the molecular etiology and pathophysiology of early onset torsion dystonia and for establishment/conversion of this clinical core into an international resource for dystonia-related investigations. Centralized core services are critical to the stability and functioning of each of the specific projects and indispensable to the coordinated and efficient attainment of the overall project goals. The functions of this core include patient recruitment, enrollment and phenotypic characterization, human tissue collection/cell line establishment and genotype analysis, and database maintenance and expansion. To ensure that this information is most readily available to colleagues across the nation, we will establish a web-based database, containing deidentified information, on all dystonia subjects who participate In research studies and consented to share their Information with investigators worldwide. To ensure that the privacy of those with familial dystonia is protected, de-identified clinical Information about the proband only will be entered in the web-based database. Further details regarding subject identity protection are in the Research Design and Methods section. This information and access to patient/family samples will allow other groups to move forward with research in human dystonia. Included as part of this core are two human pilot studies designed to explore the role of the TOR1A gene and the mutant torsinA protein in the development of dystonia. Should positive results be obtained in either of these pilot studies, they may be expanded in the future. In addition, these wellcharacterized patients and materials will be available for future clinical trials and molecular genetic studies as they are developed based on new Insights gained in the various projects described in this center grant.