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: 8437213
• 负责人: WILLIAM C NICHOLS
• 金额: $ 216.25万
• 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/8437213
• 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; Human Herpesvirus 4; 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.

描述（由申请方提供）：这是一项研究者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1组肺动脉高压（PAH）患者创建生物样本和遗传数据的生物储存库。一旦建立，这种国家资源将大大加强对这种毁灭性和致命性疾病的基础，转化和临床研究。收集的生物样本和从这些样本中生成的遗传数据将使前所未有的假设驱动的科学成为可能，迄今为止，这对于PAH或其他形式的肺动脉高压是不可能的。PAH的国家生物样本和数据存储库将代表美国学术PH中心之间前所未有的合作，其努力将导致在国内或国际上收集最大的PAH患者队列。由此产生的患者和数据队列可以为旨在通过识别导致疾病的新途径或遗传因素来加速新疗法开发的巡回研究工作提供急需的催化剂。该知识库可满足国家需求，实现NHLBI的战略愿景，并为更广泛的科学界提供真正独特的资源。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，收集和保存不少于2500例WHO第1组PAH患者的生物材料。每个患者的待存库样品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）在库中登记的2500名患者上生成全基因组SNP基因型数据和BMPR 2/ALK 1序列/MLPA数据。SNP数据将在其存入基因型和表型数据库（dbGaP）之前进行“清理”; 3）广泛推广和分发PAH国家生物样品和数据储存库中保存的样品和基因型/序列数据。所有的生物样本，临床数据，以及SNP基因型和测序数据的患者将提供给科学界。