Clinical Ascertainment and Phenotyping

临床确定和表型分析

• 批准号: 9276759
• 负责人: JAMES E LOYD
• 金额: $ 40.07万
• 依托单位: VANDERBILT UNIVERSITY MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-01-19 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/9276759
• 关键词: Biocompatible Materials; Biological; Cell Culture Techniques; Cell Line; Classification; Clinical; Colorado; Computer software; DNA; Data; Databases; Diagnostic radiologic examination; Disease; Family; Fibroblasts; Fibrosis; Freezing; Genetic; Genetic study; Goals; Hamman-Rich syndrome; Health; Human Resources; Individual; Interstitial Lung Diseases; Interstitial Pneumonia; Laboratories; Laboratory Personnel; Laboratory Procedures; Lead; Length; Lung; Lymphocyte; Maintenance; Molecular Biology; Morbidity - disease rate; Mutation; Nova Scotia; Pathogenesis; Pathologic; Pathway interactions; Patient Recruitments; Patients; Peripheral Blood Mononuclear Cell; Phenotype; Pulmonary Fibrosis; RNA; Recruitment Activity; Research Personnel; Resources; Retrieval; Sampling; Serum; Services; Site; Specimen; Specimen Handling; Structure of parenchyma of lung; System; Telomerase; Time; Universities; Variant; clinical phenotype; cohort; effective therapy; follower of religion Jewish; genetic pedigree; improved; induced pluripotent stem cell; kindred; member; mortality; novel; programs; telomere; treatment strategy

PROJECT SUMMARY The Ascertainment and Clinical Phenotyping Core (B) will establish the clinical and phenotypic classifications which are pivotal for Projects 1, 2 and 3 of the Mechanisms of Familial Pulmonary Fibrosis Program Project. Core B will also acquire and manage all of the biologic resources for the Program. The goal of Core B is to recruit patients and members of kindreds with Familial Interstitial Pneumonia to characterize the phenotypes and obtain the specimens needed to conduct all studies of the program, with the central overall objective to understand the genetic and environmental mechanisms that contribute to pulmonary fibrosis. Core B personnel and facilities will perform the following key functions: 1) family and patient ascertainment, 2) recruitment, 3) phenotyping, 4) database entry and maintenance, 5) specimen acquisition and banking, and 6) specimen retrieval and distribution. In addition Core B will provide specific laboratory procedures that are shared across projects, including: 7) telomere length and T circle analyses and 8) induced pluripotent stem cell (iPS) reprogramming. Core B study coordinators at all 3 sites (Vanderbilt, University of Colorado, and National Jewish Health) enter and maintain a detailed database in Progeny Software (Wolfville, Nova Scotia) including pedigree information on each family and phenotype on each individual. Core B laboratory personnel will be responsible for specimen processing, cell culture, storage and management of specimen data. The Core B laboratory contains a Cryomed Freezer, cell culture hood, ABI 3100 automated sequencer, ABI 7500 Real Time PCR system, thermocyclers, and centrifuges needed for its key functions listed above. In addition, Core B personnel will provide biomaterials (serum, lymphocytes, and fibroblast lines, iPS lines, lung tissue, DNA, and RNA) and high throughput molecular biology services (telomere length analyses) to Program investigators in Projects 1-3. Thus Core B will provide Program investigators and Projects 1-3 with a single centralized resource for phenotype classification and their biomaterial needs.

项目摘要 确定和临床表型核心（B）将建立临床和表型分类 这是家族性肺纤维化机制计划项目的项目1、2和3的关键。 核心B还将获得和管理该计划的所有生物资源。核心B的目标是 招募患有家族性间质性肺炎的患者和亲属，以表征表型 并获得进行该计划所有研究所需的标本，其中心总体目标是 了解导致肺纤维化的遗传和环境机制。核心B 人员和设施将履行以下关键职能：1）家庭和患者确认，2） 招募，3）表型分析，4）数据库录入和维护，5）标本采集和储存，以及6） 标本检索和分发。此外，核心B将提供特定的实验室程序， 跨项目共享，包括：7）端粒长度和T环分析和8）诱导多能干细胞 (iPS)重新编程所有3个研究中心的核心B研究协调员（范德比尔特、科罗拉多大学和国家 Jewish Health）在Progeny Software（Wolfville，新斯科舍省）中输入并维护详细的数据库，包括 每个家族的系谱信息和每个个体的表型。核心B实验室人员将 负责标本处理、细胞培养、标本资料的保管和管理。核心B 实验室包含冷冻箱、细胞培养罩、ABI 3100自动测序仪、ABI 7500真实的 时间PCR系统，热循环仪和离心机需要其关键功能以上列出。此外，核心 B人员将提供生物材料（血清、淋巴细胞和成纤维细胞系、iPS系、肺组织、DNA， 和RNA）和高通量分子生物学服务（端粒长度分析） 项目1-3。因此，核心B将为项目调查人员和项目1-3提供一个单一的集中式 表型分类和生物材料需求的资源。