Audiological and Genetic Resource for Pediatric Hearing Research

项目总结： 这个应用程序的总体目标是开发一个集成的生物医学计算基础设施 整合听力学、耳科和遗传学患者数据，以满足研究人员的需求 以病人为中心的儿科听力研究。作为美国最大的儿科保健网络， 费城儿童医院(CHOP)处于独特的地位，可以开发一种计算机 通过对儿科患者进行筛查和综合评估而获得的患者数据的基础设施 有先天性、早发性、进行性和后天性形式的听力损失。在第一阶段， 应用程序(R21)，构建生物医学计算基础设施所需的总体方法将是 下定决心。随后，对包含有限关键数据集的数据库进行概念验证查询 将演示CHOP现有的听力学和遗传学数据库中的数据。在第二阶段(R33) 在应用程序中，我们将扩展数据库，以纳入生物医学特征数据和基因 从一个大的患者队列中获取材料，并开发一个基于Web的界面，用于对数据库进行科学查询 以确保患者信息的匿名性的方式。 相关性： 儿童听力损失的许多研究和政策问题的进展受到阻碍 生物医学计算资源不足。具体地说，听力学综合关系数据库， 耳科、遗传学和其他医学数据将极大地促进关键的生物医学调查，这些调查是 这对个人家庭以及公共卫生和教育政策规划都很重要。通过建立 这样的资源，研究人员和临床医生可以更有效地解决潜在的遗传和 环境因素影响以患者为导向的治疗的有效性和结果 干预措施。这些努力将有助于有效地识别先天性心脏病的高危儿童患者。 或迟发性听力损失，对ALL儿童听力和耳科特征的直接评估 听力损失的形式和听力损失的遗传基础的特征

Project Summary: The overall objective of this application is to develop an integrated biomedical-computing infrastructure incorporating audiologic, otologic and genetic patient data that will meet the needs of investigators pursuing patient-oriented pediatric hearing research. As the largest pediatric health-care network in the United States, the Children's Hospital of Philadelphia (CHOP) is uniquely positioned to develop a computational infrastructure for patient data acquired through screening and comprehensive evaluation of pediatric patients with congenital, early-onset, progressive and acquired forms of hearing loss. In the first phase of the application (R21), the overall approach required for building a biomedical-computing infrastructure will be determined. Subsequently, a proof-of-concept query of the database containing a limited critical set of data from existing audiologic and genetic databases at CHOP will be demonstrated. In the second (R33) phase of the application, we will expand the database to incorporate biomedical characteristics data and genetic material from a large patient cohort, and develop a web-based interface for scientific inquiry of the database in a manner that ensures anonymity of patient information. Relevance: Progress on many research and policy issues in pediatric hearing loss are being hampered due to insufficient biomedical computing resources. In particular, an integrated relational database of audiologic, otologic, genetic and other medical data would profoundly facilitate critical biomedical investigations that are both important to individual families and to public health and educational policy planning. By establishing such a resource, researchers and clinicians could more effectively address how underlying genetic and environmental factors influence the effectiveness and outcome of patient-directed therapies and interventions. These efforts will facilitate effective identification of pediatric patients at high risk for congenital or late onset hearing loss, directed assessment of the audiologic and otologic features of children with all forms of hearing loss, and characterization of the genetic basis for hearing loss