Audiological and Genetic Resource for Pediatric Hearing Research

儿科听力研究的听力学和遗传资源

基本信息

批准号：
8889656
负责人：
E Bryan Crenshaw
金额：
$ 79.22万
依托单位：
CHILDREN'S HOSP OF PHILADELPHIA
依托单位国家：
美国
项目类别：
财政年份：
2012
资助国家：
美国
起止时间：
2012-08-13 至 2016-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8889656
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 Genomic DNA Genomic approach 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 information genetic resource hearing impairment improved information gathering interest meetings patient oriented patient oriented research patient privacy pediatric patients relational database repository research study software development

项目摘要

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已经为先天性听力障碍的原因开辟了新的研究途径。尽管如此，许多障碍阻碍了这些新研究方向的实现，包括鉴定患者队列的需求，开发出丰富的临床特征数据集，收集生物测量，表征基因组DNA的遗传变异，并导航保护患者隐私所需的监管机制。重要的是，已经收集了追求这些新研究方向所需的许多信息/材料，但仍在隔离的（通常是过时）临床数据系统或实验室冷冻机中孤立。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种生物医学计算基础设施，该基础设施从几个临床数据源中收集信息，并将其集成到中央关系数据库中，我们称其为听力学和遗传数据库（AUDGENDB）。为了进一步增强该数据库的实用性，我们开发了一个直观，强大的基于Web的用户界面，该界面可以构建复杂的查询，以集成听力学，耳科和遗传信息<http://audgendb.chop.chop.edu>。在这里，我们建议扩大AudgendB资源，以开发国家研究基础设施，以促进追求以患者为导向的小儿听力研究。研究基础设施将由两个组成部分组成：1）一个综合的生物医学计算平台，其中包含来自多个机构的听力，耳科，放射学和遗传患者信息，以及； 2）用于遗传样本的生物座。这种新的基础设施将大大加速听力研究，提供了可视化临床数据的新手段，促进了导致听力障碍的基因的发现，并改变了以患者为导向的听力研究的方式。这些进步将增强我们对听力障碍的潜在机制的理解，并促进开发新的治疗方法以改善或治愈先天性听力障碍。