Gene Mutation and Rescue in Human Diaphragmatic Hernia

2 P01-HD 068250的行政管理 摘要： 先天性腹股沟疝（CDH）是一种常见的出生缺陷，需要相当多的基础设施， 创建和维护多机构单一IRB，招募、临床表征、获取、处理， 并在病人身上保存生物标本，研究集中在马萨诸塞州总医院， 波士顿儿童医院和哥伦比亚大学，纽约的16个不同的临床中心。精心打磨的 患者、标本和数据的基础设施是该计划项目成功的基础，“基因 人类膈疝的突变和抢救”，研究遗传对结构性出生的贡献。 缺陷，CDH。我们已经建立了世界上最大和最仔细表征的CDH队列之一， 本行政补充规定旨在维护。我们总共招募了2045名患者， CDH和3662名未受影响的家庭成员，正在进行招募，预计将招募100 - 150人 患者和家属每年的过程中的行政补充，这将支持后续 参与者的招募和同意，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， 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。数据已由 布罗德研究所的哈佛和麻省理工学院，但尚未发布的数据发布资源在大学 宾夕法尼亚然后必须分析这些数据，然后与dbGAP和Gabriella米勒儿童第一计划共享 门户网站，以保存这一宝贵资源的数据和标本。人类受试者的详细表型 将有助于解释我们和其他广泛研究的调查人员得出的数据， 社区为子孙后代保护资源是我们的首要目标，因为我们已经投入了大量资金， 专业知识和NICHD已投资数百万美元到这个项目的主持下，结构出生 NICHD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.