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 本建议书旨在为本赠款申请的项目提供核心支持， 阐明早发性扭转性肌张力障碍的分子病因学和病理生理学， 建立/将该临床核心转化为肌张力障碍相关的国际资源 调查事务所集中化的核心服务对于每个企业的稳定性和运作至关重要， 具体项目，是协调和有效实现全面 项目目标。该核心的功能包括患者招募、登记和表型分析。 表征、人体组织采集/细胞系建立和基因型分析，以及 数据库维护和扩展。为了确保这些信息是最容易获得的 我们将建立一个基于网络的数据库， 参与研究并同意的所有肌张力障碍受试者信息 与世界各地的研究人员分享他们的信息。为了确保那些 家族性肌张力障碍是受保护的，去识别的临床信息，只有先证者将 输入到网络数据库中。有关受试者身份保护的进一步详情，请参阅 研究设计和方法部分。该信息和患者/家属访问 样本将允许其他小组推进人类肌张力障碍的研究。包括作为 这一核心的一部分是两项旨在探索TOR 1A基因作用的人类试点研究， 在肌张力障碍的发展中的突变torsinA蛋白。如果获得阳性结果， 这些试验性研究中的任何一项，将来都可能扩大。此外，这些特征良好的 患者和材料将可用于未来的临床试验和分子 基因研究，因为它们是基于在各种项目中获得的新见解而开发的 在这本书中，