National Biological Sample and Data Repository for PAH

国家多环芳烃生物样本和数据存储库

• 批准号: 8215469
• 负责人: WILLIAM C NICHOLS
• 金额: $ 213.92万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-03-03 至 2017-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8215469
• 关键词: Address; BMPR2 gene; Basic Science; Biocompatible Materials; Biological; Biological Markers; Blood specimen; Clinical Data; Clinical Research; Code; Collaborations; Collection; Communities; Consultations; DNA; Data; Databases; Defect; Deposition; Development; Disease; Doctor of Philosophy; Enrollment; Fee Schedules; Fees; Funding; Future; Genes; Genetic; Genomics; Genotype; Joint Ventures; Lead; Lymphocyte; Medical center; Monoclonal Antibody R24; National Heart, Lung, and Blood Institute; Pathogenesis; Pathway interactions; Patients; Pediatric Hospitals; Peripheral Blood Lymphocyte; Plasma; Point Mutation; Principal Investigator; Pulmonary Hypertension; RNA analysis; Recovery; Request for Proposals; Research; Research Personnel; Research Project Grants; Resources; Review Committee; Risk; SNP genotyping; Sampling; Science; Transcript; Translational Research; United States; Vision; Work; World Health Organization; base; biobank; catalyst; cohort; cost; database of Genotypes and Phenotypes; genome-wide; health organization; insertion/deletion mutation; material transfer agreement; novel; peripheral blood; pulmonary arterial hypertension; repository

DESCRIPTION (provided by applicant): This is an Investigator-Initiated Resource-Related Research Project Application (R24) to create a biorepository of both biological samples and genetic data for patients with World Health Organization (WHO) Group 1 pulmonary arterial hypertension (PAH). Once established, this national resource will significantly enhance the conduct of basic, translational, and clinical research for this devastating and lethal disorder. The biological samples collected and genetic data generated from these samples will enable unprecedented hypothesis-driven science which to date has not been possible for PAH or other forms of pulmonary hypertension. The National Biological Sample and Data Repository for PAH will represent an unprecedented collaboration between academic PH centers across the United States whose efforts will lead to the collection of the largest cohort of PAH patients either nationally or internationally. The resulting cohort of patients and data can provide the much needed catalyst for tour de force research efforts aimed at accelerating the development of novel therapies through the identification of novel pathways or genetic factors contributing to the disorder. This repository undeniably addresses a national need that fulfills the strategic vision of NHLBI and provides truly unique resources to the broader scientific community. To establish this national resource, we propose to: 1) Work with PAH academic centers in the United States to collect and maintain biological material from no less than 2500 WHO Group 1 PAH patients. Samples to be banked on each patient include total genomic lymphocyte DNA, EBV transformed peripheral blood lymphocytes, and plasma; 2) Generate both genome wide SNP genotype data and BMPR2/ALK1 sequence/MLPA data on 2500 patients enrolled in the bank. The SNP data will be "cleaned" prior to its deposition in the database of Genotypes and Phenotypes (dbGaP); 3) Widely promote and distribute samples and genotype/sequence data maintained at the National Biological Sample and Data Repository for PAH. All biological samples, clinical data, as well as the SNP genotype and sequencing data for the patients will be made available to the scientific community. PUBLIC HEALTH RELEVANCE: Pulmonary arterial hypertension is a devastating and lethal disorder. Efforts to identify additional factors that contribute to it have been stymied due to a lack of a large collection of patients and biological samples. We will create a biobank of biological samples and important genetic data which will enable future studies to identify novel genetic factors or biological pathways that can be used to develop novel therapies for PAH.

描述(由申请人提供)：这是一个由调查员发起的资源相关研究项目申请(R24)，旨在为世界卫生组织(WHO)第一组肺动脉高压(PAH)患者创建生物样本和基因数据的生物存储库。一旦建立，这一国家资源将大大加强对这种毁灭性和致命性疾病的基础、翻译和临床研究的进行。收集的生物样本和从这些样本产生的基因数据将使史无前例的假设驱动的科学成为可能，这是迄今为止对PAH或其他形式的肺动脉高压所无法实现的。PAH的国家生物样本和数据存储库将代表着全美学术PH中心之间史无前例的合作，他们的努力将导致收集全国或国际上最大的PAH患者队列。由此产生的患者队列和数据可以为环法研究工作提供亟需的催化剂，旨在通过确定导致这种疾病的新途径或遗传因素来加速新疗法的开发。不可否认，这个资源库满足了NHLBI的战略愿景，满足了国家的需求，并为更广泛的科学界提供了真正独特的资源。为了建立这一国家资源，我们建议：1)与美国的PAH学术中心合作，收集和维护不少于2500名WHO第一组PAH患者的生物材料。每个患者的样本包括总基因组淋巴细胞DNA、EBV转化的外周血淋巴细胞和血浆；2)在银行登记的2500名患者中生成全基因组SNP基因数据和BMPR2/ALK1序列/MLPA数据。在将SNP数据存入基因类型和表型数据库(DBGaP)之前，将对其进行“清理”；3)广泛宣传和分发保存在多环芳烃国家生物样品和数据库中的样本和基因/序列数据。所有生物样本、临床数据以及患者的SNP基因和测序数据都将向科学界提供。 公共卫生相关性：肺动脉高压是一种破坏性和致命性疾病。由于缺乏大量的患者和生物样本，确定导致这种疾病的其他因素的努力受到了阻碍。我们将创建一个生物样本和重要基因数据的生物库，使未来的研究能够确定新的遗传因素或生物途径，可用于开发治疗PAH的新方法。