Recruiting and Phenotyping Core

核心A：招募和表型核心 摘要： 虽然先天性腹股沟疝（CDH）是一种常见的出生缺陷，但它仍然相对罕见， 用于招募、临床表征和获得患者生物标本的基础设施，是 为该项目的成功奠定了基础。通过合并两个完善的鼎晖研究项目 （马萨诸塞州总医院/波士顿儿童医院和哥伦比亚/DHREAMS）我们已经建立了 世界上最大和最仔细表征的CDH队列之一。总的来说，这两项研究 招募了1500名CDH患者和2683名未受影响的家庭成员， 预计在这5年的补助期间将再招募900名患者。此核心支持 参与者的招募和知情同意，收集广泛的表型数据，包括回顾性医学 记录审查和纵向临床随访、生物标本的采集和处理以及管理 数据和IRB协议收集的标本将广泛用于所有拟议的基因组研究 在项目I中。此外，人类受试者的详细表型将有助于解释 来自项目II和III中小鼠模型的数据，以及患者特异性细胞系将用于 项目III中的功能测定。

CORE A: RECRUITMENT AND PHENOTYPING CORE ABSTRACT: Although congenital diaphragmatic hernia (CDH) is a common birth defect, it is still relatively rare and requires infrastructure for recruiting, clinically characterizing, and obtaining biospecimens on patients, and is the foundation for the success of this Program Project. By merging two well-established CDH research programs (Massachusetts General Hospital/Boston Children’s Hospital and Columbia/DHREAMS) we have established one of the largest and most carefully characterized CDH cohorts in the world. Collectively, these two studies have enrolled 1500 patients with CDH and 2683 unaffected family members, and ongoing recruitment is expected to enroll 900 additional patients over the course of this 5 year grant. This Core supports the recruitment and consent of participants, collection of extensive phenotypic data including retrospective medical record review and longitudinal clinical follow-up, collection and processing of biospecimens, and management of data and IRB protocols. The specimens collected will be used extensively for all genomic studies proposed in Project I. Furthermore, the detailed phenotyping of human subjects will be instrumental in the interpretation of data derived from mouse models in Projects II and III, and patient-specific cell lines will be used for functional assays in Project III.