Recruiting and Phenotyping Core
招募和表型核心
基本信息
- 批准号:10159739
- 负责人:
- 金额:$ 20.71万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 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:
- 关键词:Academic Medical CentersBiological AssayBloodBostonCell LineClinicalCollectionCongenital AbnormalityCongenital diaphragmatic herniaConsentData AnalysesDiaphragmatic HerniaDoctor of PhilosophyEnrollmentFamilyFamily memberFoundationsGene MutationGeneral HospitalsGenomic DNAGenomicsGrantHumanHuman Subject ResearchInfrastructureInstitutional Review BoardsMassachusettsMedical HistoryMedical RecordsOperative Surgical ProceduresOutcomeParticipantPathologyPatientsPediatric HospitalsPhenotypePhysical ExaminationProcessProtocols documentationRecording of previous eventsResearchRespiratory DiaphragmSpecimenclinically significantcohortdata managementfollow-uphuman subjectmouse modelphenotypic dataprogramsrecruitsuccess
项目摘要
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:招募和表型核心
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Frances Arianwen High其他文献
Frances Arianwen High的其他文献
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