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 该建议是为针对本赠款申请的项目的核心支持 阐明早期发作扭转肌张力障碍的分子病因和病理生理学 将该临床核心建立/转换为与肌张力障碍有关的国际资源 调查。集中式核心服务对于每一个的稳定性和功能至关重要 特定的项目，对整体的协调和有效成就必不可少 项目目标。该核心的功能包括患者招募，入学和表型 表征，人体组织收集/细胞系的建立和基因型分析以及 数据库维护和扩展。确保最容易获得此信息 对于全国各地的同事，我们将建立一个基于Web的数据库 有关参加研究并同意的所有肌张力障碍对象的信息 与全球调查人员分享他们的信息。确保那些与 家族性肌张力障碍受到保护，仅有关该概率的临床信息，仅将是 输入基于Web的数据库。有关主题身份保护的更多详细信息 研究设计和方法部分。这些信息和与患者/家庭的访问 样本将允许其他群体继续进行人类障碍研究。包括为 该核心的一部分是两项旨在探索tor1a基因和 突变的躯干蛋白在肌张力障碍的发展中。是否应在 这些试点研究中的任何一个，它们都可能会在未来进行扩展。另外，这些良好的 患者和材料将来可以进行以后的临床试验和分子 基于各种项目中获得的新见解而开发的遗传研究 在此中心赠款中进行了描述。