Audiological and Genetic Resource for Pediatric Hearing Research

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调控机制。重要的是，追求这些新研究方向所需的大部分信息/材料已经收集完毕，但仍被隔离在不同的--往往是过时的--临床数据系统或实验室冷冻室中。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，它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，我们称之为听力和遗传数据库(AudGenDB)。为了进一步增强这个数据库的实用性，我们开发了一个直观、强大的基于Web的用户界面，可以构建集成了听力、耳科和遗传信息的复杂查询&lt；http://audgendb.chop.edu&gt；。 在这里，我们建议扩大AudGenDB的资源，以开发一个全国性的研究基础设施，以促进以患者为导向的儿科听力研究。研究基础设施将由两部分组成：1)综合生物医学计算平台，包括来自几个机构的听力学、耳科、放射学和遗传病患信息；2)遗传样本生物储存库。这一新的基础设施将极大地加速听力研究，提供可视化临床数据的新手段，促进发现导致听力障碍的基因，并改变以患者为导向的听力研究的开展方式。这些进展将加深我们对听力障碍潜在机制的理解，并有助于开发新的治疗方法来改善或治愈先天性听力障碍。

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.