NATIONAL REGISTRY OF GENETICALLY TRIGGERED THORACIC AORTIC ANEURYSMS

这个子项目是许多利用资源的研究子项目之一 由NIH/NCRR资助的中心拨款提供。子项目的主要支持 而子项目的主要调查员可能是由其他来源提供的， 包括其它NIH来源。 列出的子项目总成本可能 代表子项目使用的中心基础设施的估计数量， 而不是由NCRR赠款提供给子项目或子项目工作人员的直接资金。 GenTAC的总体目标是建立遗传性胸主动脉瘤和相关疾病患者的登记，并收集相关的医疗数据以及血液和组织样本。该登记研究将建立一个生物标本库存和生物信息学基础设施，使研究能够确定最佳医疗实践，以推进遗传性胸主动脉瘤和其他心血管并发症的临床管理。为了实现这些目标，登记研究将：1）制定标准方法来收集数据和标本，用于研究，以表征有主动脉破裂和夹层风险以及发生其他心血管并发症的患者。2)记录接受动脉瘤手术修复的患者的特征及其临床结局3）处理组织和血液标本4）分析收集的数据5）向登记研究人员和有兴趣促进对遗传性主动脉瘤的基本理解和患病患者管理的外部研究人员提供这些资源的访问6）发布和传播结果。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. The overall objective of GenTAC is to establish a registry of patients with genetically induced thoracic aortic aneurysms and related conditions, and collect associated medical data, as well as blood and tissue samples. The registry will establish a biospecimen inventory and bioinformatics infrastructure that will enable research to determine best medical practices to advance the clinical management of genetic thoracic aortic aneurysms, and other cardiovascular complications. To achieve these goals the registry will: 1) Develop standard methods to collect data and specimens which will be used for research to characterize patients at risk for aortic rupture and dissection, and development of other cardiovascular complications. 2) Record the characteristics of patients undergoing surgical repair of aneurysms and their clinical outcomes 3) Process tissue and blood specimens 4) Analyze data collected 5) Provide access to these resources to Registry investigators and outside researchers who are interested in advancing the fundamental understanding of genetic aortic aneurysms and management of afflicted patients 6) Publish and disseminate results.