CORE C--Children's Hospital-Harvard Tetralogy of Fallot Re

CORE C--哈佛法洛四联症儿童医院再保险

• 批准号: 6772370
• 负责人: ROGER E BREITBART
• 金额: $ 21.44万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-01-01 至 2008-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6772370
• 关键词: DNA; biomedical facility; clinical research; congenital heart disorder; cytogenetics; family genetics; genotype; human subject; information systems; patient /disease registry; phenotype; tetralogy of Fallot

The purpose of Core C is to create a centralized repository of clinical and genetic information, DNA, and cardiac tissue for patients with tetralogy of Fallot (TOF; includes TOF with either pulmonary stenosis or pulmonary atresia throughout this proposal), and to distribute these critical resources to participating SCCOR investigators to enable the component research projects. The Cardiovascular Program at Children's Hospital Boston, because of its very high clinical volume, is in a unique position to recruit large numbers of TOF patients during the grant period. The Children's Hospital-Harvard TOF Registry will include newly diagnosed infants as well as older children and adults with TOF, including those enrolled in the studies in SCCOR Projects 1 and 2. TOF patients with a family history of congenital heart disease (CHD) including TOF will be particularly sought. An electronic database will be populated with demographic information, diagnoses (cardiac, extra-cardiac, and genetic, including cytogenetics), and detailed family histories and pedigrees. DNA will be obtained from patients and parents upon enrollment in the Registry. Cardiac tissues will be collected from patients at the time of surgery and/or autopsy, as available. The distribution of patient information and materials to SCCOR investigators will be tracked in the database. The Registry patient database will be further annotated with novel genotype and phenotype data arising from the various SCCOR research projects. A future goal of the TOF Registry will be to permit discovery of clinically important genotype-phenotype correlations in TOF. Knowledge gained from the research enabled by the TOF Registry can be expected to contribute ultimately to improved prevention, detection, treatment, and outcomes for patients and families with TOF.

Core C的目的是为Fallot的四边形患者（TOF;包括肺狭窄或肺动脉lont亵tof tof tof tof Fallot，tof;在本提案中，都为参与的SCCOR研究人员分配这些关键资源以启用组件研究项目。波士顿儿童医院的心血管计划由于其很高的临床量，其独特的位置可以在赠款期间招募大量TOF患者。儿童医院 - 哈佛TOF登记处将包括新诊断的婴儿以及年龄较大的儿童和患有TOF的儿童，包括参加SCCOR项目1和2的研究的儿童，包括先天性心脏病家族史（CHD）的TOF患者（包括TOF）的TOF患者将是 特别寻求。电子数据库将带有人口统计信息，诊断（心脏，心外和遗传学，包括细胞遗传学）以及详细的家庭历史和谱系。注册表入学后，将从患者和父母那里获得DNA。在手术和/或尸检时，将从患者中收集心脏组织。将在数据库中跟踪患者信息和材料向SCCOR调查人员的分布。注册表患者数据库将通过各种SCCOR研究项目产生的新型基因型和表型数据进一步注释。 TOF注册表的未来目标将是允许在TOF中发现临床上重要的基因型 - 表型相关性。从TOF注册表启用的研究中获得的知识 可以预期，最终有助于改善TOF患者和家庭的预防，检测，治疗和结果。