Recruiting and Phenotyping Core

核心A：招聘和表型分析核心 摘要： 虽然先天性横隔疝(CDH)是一种常见的出生缺陷，但它仍然相对罕见，需要 用于招募、临床特征和获取患者生物样本的基础设施，是 为本计划项目的成功奠定基础。通过合并两个成熟的CDH研究项目 (马萨诸塞州综合医院/波士顿儿童医院和哥伦比亚/DHREAMS)我们建立了 世界上规模最大、特征最仔细的CDH队列之一。总的来说，这两项研究 已经招募了1500名CDH患者和2683名未受影响的家庭成员，正在进行招募 预计在这5年的拨款过程中再招收900名患者。此核心支持 招募和同意参与者，收集广泛的表型数据，包括回顾医学 记录回顾和纵向临床随访，收集和处理生物样本，以及管理 数据和IRB协议。收集的标本将广泛用于所有建议的基因组研究。 在项目I中，人类受试者的详细表型将有助于解释 来自项目II和III中的小鼠模型的数据，以及特定于患者的细胞系将用于 项目III中的功能分析。

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.