Gene Mutation and Rescue in Human Diaphragmatic Hernia

2P01-HD068250行政补编 摘要： 先天性横隔疝(CDH)是一种常见的出生缺陷，需要相当大的基础设施来治疗 创建和维护多机构的单一IRBs，招募，临床特征，获得，处理， 并在患者身上维持生物显微镜，研究中心在马萨诸塞州总医院， 波士顿儿童医院和纽约哥伦比亚大学来自16个不同的临床中心。经过精心磨练的 患者、样本和数据的基础设施是该计划项目成功的基础 研究遗传因素对结构性出生的影响 缺陷，CDH。我们已经建立了世界上规模最大、特征最仔细的CDH队列之一， 这份行政副刊旨在保留这一点。总的来说，我们已经招募了2045名患者 CDH和3662名未受影响的家庭成员，正在进行的招募预计将招收100-150人 行政补编期间每年的病人和家属人数，这将支持后续工作 招募和同意参与者，继续收集和组织广泛的表型数据 包括回顾性病历审查和纵向临床随访、随访收集和 保存现有生物标本的标本处理和高质量的数据管理 基因组和表型数据的生物信息学分析和注释。这些数据已由 哈佛大学和麻省理工学院的布罗德研究所，但尚未由哈佛大学的数据发布资源发布 宾夕法尼亚州。然后必须分析这些数据，然后与DBGaP和Gabriella Miller Kid的第一个程序共享 为这一宝贵资源保存数据和标本的门户网站。人类受试者的详细表型 将有助于解释由我们和其他研究人员得出的数据 社区。保护后代的资源是我们最重要的目标，因为我们已经投入了大量的资金 专业知识和NICHD在结构诞生的赞助下向该项目投资了数百万美元 NICHD的缺陷计划。

ADMINISTRATIVE SUPPLEMENT TO 2P01-HD068250 ABSTRACT: Congenital diaphragmatic hernia (CDH) is a common birth defect, which requires considerable infrastructure for creating and maintaining multi-institutional single IRBs, recruiting, clinically characterizing, obtaining, processing, and maintaining biospecimens on patients, with research centered at the Massachusetts General Hospital, Boston Children’s, and Columbia University, New York from 16 different clinical centers. The carefully honed infrastructure for patients, specimens, and data is the foundation for the success of this Program Project, “Gene Mutation and Rescue in Human Diaphragmatic Hernia”, to study genetic contributions to the structural birth defect, CDH. We have established one of the largest and most carefully characterized CDH cohorts in the world, which this Administrative Supplement aims to preserve. Collectively, we have already enrolled 2045 patients with CDH and 3662 unaffected family members, and ongoing recruitment has been expected to enroll 100 – 150 patients and families per year over the course of the Administrative Supplement, which will support the follow on recruitment and consent of participants, the continued collection and organization of extensive phenotypic data including retrospective medical record review and longitudinal clinical followup, follow on collection and processing of specimens with preservation of existing biospecimens, and data management by high quality bioinformatic analyses and annotation of genomic and phenotyping data. The data has been sequenced by the Broad Institute of Harvard and MIT but not yet released by the Data Release Resource at the University of Pennsylvania. This data must then be analyzed, then shared with dbGAP and Gabriella Miller Kid’s First Program portals to preserve data and specimens for this precious resource. The detailed phenotyping of human subjects will be instrumental in the interpretation of data derived by us and other investigators of the broad research community. Protecting the resource for posterity is uppermost in our Aims since we have invested considerable expertise and NICHD has invested millions of dollars into this Project under the auspices of the Structural Birth Defects Program of the NICHD.