Audiological and Genetic Resource for Pediatric Hearing Research

描述（由申请人提供）：项目摘要：本申请的总体目标是开发一个集成的生物医学计算基础设施，包括听力学，耳科和遗传患者数据，以满足研究人员追求以患者为导向的儿科听力研究的需求。作为美国最大的儿科医疗保健网络，费城儿童医院（CHOP）具有独特的定位，可以为通过筛查和综合评估先天性、早发性、进行性和获得性听力损失的儿科患者获得的患者数据开发计算基础设施。在应用的第一阶段（R21），将确定构建生物医学计算基础设施所需的总体方法。随后，将展示对包含来自CHOP现有听力学和遗传学数据库的有限关键数据集的数据库的概念验证查询。在应用的第二阶段（R33），我们将扩大数据库，纳入大型患者队列的生物医学特征数据和遗传物质，并开发一个基于网络的界面，以确保患者信息匿名的方式对数据库进行科学查询。相关性：由于生物医学计算资源不足，儿科听力损失的许多研究和政策问题的进展受到阻碍。特别是，一个综合的关系数据库的听力，耳科，遗传和其他医疗数据将大大促进关键的生物医学调查，都是重要的个人家庭和公共卫生和教育政策规划。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如何影响患者导向的治疗和干预措施的有效性和结果。这些努力将有助于有效地识别先天性或迟发性听力损失的高危儿童患者，直接评估各种形式听力损失儿童的听力学和耳科特征，并表征听力损失的遗传基础。

DESCRIPTION (provided by applicant): 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.