The overall objective of this project 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 this project, the overall approach required for building a biomedical-computing infrastructure was 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 was demonstrated. In the second phase of this project, we are expanding the database to incorporate biomedical characteristics data and genetic material from a large patient cohort, and developing a web-based interface for scientific inquiry of the database in a manner that ensures anonymity of patient information.
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. The ultimate goal of AudGenDB is to promote research into the causes of pediatric hearing loss with the long-term aim of developing therapies to ameliorate or cure congenital deafness.
The AudGenDB project is led by a team of researchers from the Childrenâ€™s Hospital of Philadelphia Research Institute, and is funded by the National Institutes on Deafness and Other Communication Disorders of the NIH.