Pulmonary Hypertension Breakthrough Initiative

描述(申请人提供)：肺动脉高压(PAH)是一组不同类型的疾病，死亡率高，诊断困难，可用治疗有限，无法治愈。肺动脉高压突破倡议(PHBI)致力于对患有PAH和对照的人肺进行全面的生物库划分，并对累积的标本进行详细的临床注释。自2006年启动以来，PHBI成功地开发了一个新颖而独特的基础设施，其成功有赖于高度整合的大学网站网络的积极参与，这些网站在每个能力领域都具有广泛的专业知识：在PAH临床护理(包括患者应计费用)、肺移植、病理学、遗传学、基因组学和细胞分离方面的卓越表现。该应用程序的目标是将这些无与伦比的资源和独特的专业知识转化为R24支持的计划，以指导银行收集特定疾病组的样本，这些样本将与病理、遗传和基因组亚型高度整合，这些亚型不仅与肺和血液样本有关，而且现在扩展到正在衰竭的PAH心脏。这项提议将与卫生和社会发展倡议目前在外地支持的倡议高度协同。我们基础设施和治理的灵活性将使我们能够果断地做出反应，并与任何未来的NHLBI倡议相结合。我们建议，这一独特的基础设施将发挥紧迫的作用，推动将关键发现转化为PAH患者，并帮助在该领域产生长期影响的新发现。将致力于实现以下具体目标： 提案的具体目标 1)建立肺动脉高压和供体对照失败的标本的综合生物信息库。 2)提供基础设施，通过致力于管理、组织处理和病理学、细胞系开发以及基因组特征和编目的综合核心，支持基于多环芳烃的人体组织研究。 3)开发和实施研究设计和分析咨询接口，以促进更广泛的科学调查。

DESCRIPTION (provided by applicant): Pulmonary Arterial Hypertension (PAH) is a heterogeneous group of diseases with high mortality, difficult diagnosis, limited available treatment, and no cure. The Pulmonary Hypertension Breakthrough Initiative (PHBI) is dedicated to comprehensive biobanking of human lungs with PAH and controls, supported by a detailed clinical annotation of the accrued specimens. Having started in 2006, the PHBI successfully developed a novel and unique infrastructure, whose success relied on the active participation of a highly integrated network of university-based sites with extensive expertise in each of the spheres of competency: excellence in clinical care of PAH (including patient accruals), lung transplantation, pathology, genetics, genomics, and cell isolation. The goal of this application is to leverage these unparalled resources and unique expertise into an R24-supported initiative to direct the bank to accrue specimens of disease-specific groups, which will be highly integrated with pathologic, genetic, and genomic subphenotypes pertaining to not only lung and blood specimens, but now expanding to the failing PAH heart. This proposal will be highly synergistic with the presently supported initiatives by the NHLBI in the field. The flexibilty of our infrastructure and governance will allow us to be decidedly responsive and integrated with any future NHLBI initiatives. We propose that this unique infrastructure will serve the pressing roles of advancing the translation of key discoveries to the patients with PAH and to aid in new discoveries that will have a long lasting impact in the field. The following specific aims will be pursued: Specific Aims of the Proposal 1) To establish a comprehensive biorepository of the specimens from subjects with pulmonary arterial hypertension and failed donor controls. 2) To provide the infrastructure to support human tissue based research in PAH via integrated cores devoted to Administration, Tissue Handling and Pathology, Cell Line Development, and Genomic Characterization and Cataloging. 3) To develop and implement an interface for consultation of research design and analysis to enhance broader scientific investigation.