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
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| Tsai, Ellen A; Berman, Micah A; Conlin, Laura K et al. (2013) PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. Am J Med Genet A 161A:2134-47 |
| Francey, Lauren J; Conlin, Laura K; Kadesch, Hanna E et al. (2012) Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A 158A:298-308 |
