Recruiting and Phenotyping Core

招募和表型核心

• 批准号: 10159739
• 负责人: Frances Arianwen High
• 金额: $ 20.71万
• 依托单位: MASSACHUSETTS GENERAL HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-08-29 至 2024-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10159739
• 关键词: Academic Medical Centers; Biological Assay; Blood; Boston; Cell Line; Clinical; Collection; Congenital Abnormality; Congenital diaphragmatic hernia; Consent; Data Analyses; Diaphragmatic Hernia; Doctor of Philosophy; Enrollment; Family; Family member; Foundations; Gene Mutation; General Hospitals; Genomic DNA; Genomics; Grant; Human; Human Subject Research; Infrastructure; Institutional Review Boards; Massachusetts; Medical History; Medical Records; Operative Surgical Procedures; Outcome; Participant; Pathology; Patients; Pediatric Hospitals; Phenotype; Physical Examination; Process; Protocols documentation; Recording of previous events; Research; Respiratory Diaphragm; Specimen; clinically significant; cohort; data management; follow-up; human subject; mouse model; phenotypic data; programs; recruit; success

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.

核心A：招聘和表型核心 抽象的： 尽管先天性隔膜疝（CDH）是常见的先天缺陷，但它仍然相对较少，需要 用于招募，临床表征和获得患者生物测量的基础设施，是 该计划项目成功的基础。通过合并两个成熟的CDH研究计划 （马萨诸塞州综合医院/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，最仔细的CDH队列之一。总体而言，这两个研究 已经招募了1500名CDH患者和2683名未受影响的家庭成员，并且正在进行的招聘是 预计将在这项5年赠款的过程中注册900名患者。这个核心支持 参与者的招聘和同意，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，生物测量的收集和处理以及管理 数据和IRB协议。收集的标本将广泛用于所有基因组研究 此外，在项目I中，人类受试者的详细表型将在解释中发挥作用 项目II和III中的鼠标模型得出的数据以及特定于患者的细胞系将用于 项目III的功能测定。