Clinical Ascertainment and Phenotyping

项目总结 确定和临床表型核心(B)将建立临床和表型分类 对家族性肺纤维化机制研究项目1、2、3具有重要意义。 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 招募家族性间质性肺炎患者及家系成员进行表型分析 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主要职能：1)确定家属和病人；2) 招聘，3)表型鉴定，4)数据库录入和维护，5)标本采集和储存，6) 标本的检索和分发。此外，核心B将提供具体的实验室程序，这些程序 跨项目共享，包括：7)端粒长度和T环分析以及8)诱导多能干细胞 (IPS)重新编程。所有3个站点的核心B研究协调员(范德比尔特、科罗拉多大学和国家 犹太健康)在Progeny Software(新斯科舍省沃尔夫维尔)中输入和维护详细的数据库，包括 每个家庭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、标本数据的存储和管理。核心B 实验室内有一个冷冻冷冻机，细胞培养罩，ABI 3100自动测序仪，ABI 7500 Real 时间聚合酶链式反应系统、热循环仪和离心机是其上述关键功能所需的。此外，酷睿 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、 和高通量分子生物学服务(端粒长度分析)提供给计划研究人员 在项目1-3中。因此，核心B将为计划调查员和项目1-3提供单一的集中式 表型分类资源及其生物材料需求。

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.