Audiological and Genetic Resource for Pediatric Hearing Research

儿科听力研究的听力学和遗传资源

• 批准号: 8529485
• 负责人: E Bryan Crenshaw
• 金额: $ 70.04万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-08-13 至 2017-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8529485
• 关键词: Address; Bilateral; Biocompatible Materials; Biological; Biomedical Computing; Blood; Boston; Characteristics; Child; Childhood; Clinical; Clinical Data; Clinical Research; Communities; Complement; Complex; DNA; Data; Data Quality; Data Set; Data Sources; Databases; Development; Discipline; Electronic Health Record; Ensure; Genetic; Genetic Databases; Genetic Variation; Genomics; Goals; Hearing; Information Systems; Information Technology; Institution; Laboratories; Lead; Link; Methods; National Institute on Deafness and Other Communication Disorders; Online Systems; Outcome; Patients; Pediatric Hospitals; Phase; Phenotype; Philadelphia; Procedures; Research; Research Infrastructure; Research Personnel; Resources; Retrieval; Sampling; Software Tools; Specimen; Speed; Testing; Time; Universities; biobank; clinical Diagnosis; clinical practice; cohort; computing resources; data acquisition; gene discovery; genetic resource; hearing impairment; improved; information gathering; interest; meetings; patient oriented; patient oriented research; patient privacy; relational database; repository; research study; software development

DESCRIPTION (provided by applicant): Advances in information technology and genomics approaches have opened new avenues of research into the causes of congenital hearing impairment. Nonetheless, many obstacles impede the realization of these new research directions, including the need to identify patient cohorts, develop a rich dataset of clinical characteristics, collect biospecimens, characterize genetic variation in genomic DNA, and navigate the regulatory mechanisms necessary to protect patient privacy. Importantly, much of the information/material necessary to pursue these new research directions has been collected, but remains isolated in disparate - often obsolete - clinical data systems or laboratory freezers. To overcome the obstacles to acquiring clinical research data, we have developed a biomedical computing infrastructure at the Children's Hospital of Philadelphia that collects information from several clinical data sources, and integrates them into a central relational database, which we call the Audiological and Genetic Database (AudGenDB). To further enhance the utility of this database, we have developed an intuitive, powerful web-based user interface that can build complex queries integrating audiological, otological and genetic information < http://audgendb.chop.edu >. Here, we propose to expand the AudGenDB resource to develop a national research infrastructure that will facilitate the pursuit of patient-oriented pediatric hearing research. Thi research infrastructure will be comprised of two components: 1) an integrated biomedical computing platform incorporating audiologic, otologic, radiologic and genetic patient information from several institutions, and; 2) a biorepository for genetic samples. This new infrastructure wil drastically accelerate hearing research, provide new means to visualize clinical data, facilitate the discovery of genes that lead to hearing impairment and transform the way that patient-oriented hearing research is undertaken. These advances will enhance our understanding of the underlying mechanisms of hearing impairment, as well as facilitate the development of new treatments to ameliorate or cure congenital hearing impairment.

描述（由申请人提供）：信息技术和基因组学方法的进步为研究先天性听力障碍的原因开辟了新的途径。然而，许多障碍阻碍了这些新的研究方向的实现，包括需要确定患者队列，开发丰富的临床特征数据集，收集生物标本，表征基因组DNA的遗传变异，以及导航保护患者隐私所需的监管机制。重要的是，追求这些新的研究方向所需的许多信息/材料已经收集，但仍然孤立在不同的-通常是过时的-临床数据系统或实验室冷冻箱中。为了克服获取临床研究数据的障碍，我们在费城儿童医院开发了一个生物医学计算基础设施，从几个临床数据源收集信息，并将它们集成到一个中央关系数据库中，我们称之为听力学和遗传数据库（AudGenDB）。为了进一步提高该数据库的实用性，我们开发了一个直观、功能强大的基于web的用户界面，可以构建集成听力学、耳科学和遗传信息的复杂查询< http://audgendb.chop.edu >。