Audiological and Genetic Resource for Pediatric Hearing Research

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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.