Clinical Core

临床核心

• 批准号: 8149948
• 负责人: NUTAN SHARMA
• 金额: $ 39万
• 依托单位: MASSACHUSETTS GENERAL HOSPITAL
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8149948
• 关键词: Access to Information; Affect; Alabama; Applications Grants; Autopsy; Basal Ganglia; Biological; Biopsy; Blood; Blood specimen; Brain; Cell Line; Cells; Clinic; Clinical; Clinical Research; Clinical Trials; Collection; Consent; Consent Forms; Counseling; DNA; Data; Databases; Deposition; Development; Doctor of Philosophy; Dopamine; Dystonia; Dystonia Musculorum Deformans; Enrollment; Ensure; Etiology; Evaluation; Family; Family history of; Family member; Fibroblasts; Foundations; Functional Imaging; Functional disorder; Funding; Future; Genes; Genetic Polymorphism; Genotype; Goals; Grant; Health Professional; Hereditary Dystonia; High Pressure Liquid Chromatography; Homovanillic Acid; Human; Hydroxyindoleacetic Acid; Individual; Institution; International; Investigation; Israel; Link; Maintenance; Maryland; Medical; Medical Research; Medical center; Metabolism; Methods; Molecular; Molecular Genetics; Movement Disorders; Mutation; Neurotransmitters; New York; Online Systems; Pathogenesis; Patient Education; Patient Recruitments; Patients; Phenotype; Pilot Projects; Privacy; Professional Organizations; Proteins; Recommendation; Research; Research Design; Research Ethics Committees; Research Personnel; Resources; Risk; Role; Sampling; Secure; Serotonin; Services; Skin; Source; TOR1A gene; Tissue Banking; Tissue Banks; Tissues; TorsinA; Universities; Variant; abortion; base; brain tissue; direct application; early onset; fetal; follow-up; genetic pedigree; human tissue; insight; lymphoblast; lymphoblastoid cell line; mutant; proband; relational database; research study

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.

介绍 本提案旨在为本次赠款申请的项目提供核心支持 阐明早发性扭转肌张力障碍的分子病因学和病理生理学 将该临床核心建立/转变为肌张力障碍相关的国际资源 调查。集中的核心服务对于每个系统的稳定性和功能至关重要 具体项目对于协调和有效实现总体目标是必不可少的 项目目标。该核心的功能包括患者招募、登记和表型 表征、人体组织收集/细胞系建立和基因型分析，以及 数据库维护和扩展。确保此信息最容易获得 对于全国各地的同事，我们将建立一个基于网络的数据库，其中包含去识别的信息 参与研究并同意的所有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。为了确保那些人的隐私 家族性肌张力障碍受到保护，仅有关先证者的去识别化临床信息将被公开 输入基于网络的数据库。有关主体身份保护的更多详细信息，请参阅 研究设计和方法部分。这些信息以及对患者/家属的访问 样本将使其他团体能够推进人类肌张力障碍的研究。包含为 该核心的一部分是两项人体试点研究，旨在探索 TOR1A 基因的作用和 肌张力障碍发展中的突变torsinA蛋白。如果取得积极成果 这些试点研究中的任何一项都可能在未来得到扩展。此外，这些特征鲜明 患者和材料将可用于未来的临床试验和分子生物学 基因研究是根据在各个项目中获得的新见解而开发的 该中心拨款中描述。