Curation of Model Organism Phenotype and Disease Model Data to Augment Gabriella Miller Kid's First Data Sets for Enhanced Discovery and Therapeutic Development

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PROJECT SUMMARY Children born with structural birth defects have an increased risk of developing pediatric cancer, implicating shared genetic pathways between these two disorders. However, studying these diseases can be challenging due to the limited amount of pediatric data available. Model organisms are increasingly used to understand the genetic basis of human disease, providing effective tools for functional and phenotypic validation as well as discovery of potential biomarkers and therapeutic targets. The Gabriella Miller Kids First Data Resource Center currently houses human pediatric cancer and birth defect data sets but lacks access to valuable model organism data. The overall objective of this proposal is to deliver focused literature curation of mouse and zebrafish disease models of childhood cancer and structural birth defects to increase the availability of model organism data, and to provide access to all model organism data relevant to cancer and structural birth defects in the Alliance of Genome Resources. Specific Aim 1 is to provide focused literature curation of animal models of diseases relevant to childhood cancer and structural birth defects. Specifically, a) focused literature curation of mouse and zebrafish genes and models of interest to childhood cancer and structural birth defects will be conducted; and b) mouse and zebrafish disease and phenotype ontologies and term relationships will be expanded to support curation and cross-species analysis. Specific Aim 2 is to provide a customized search portal for Alliance model organism gene and disease model data related to childhood cancer and structural birth defects. Specifically, a) gene and disease page portals to Alliance data will be created, accessing information on genes, disease models and literature relevant to childhood cancer and structural birth defects; and b) information on availability of disease models and the researchers using these models will be provided. Using model organism data relevant to childhood cancer and structural birth defects to fill in gaps of knowledge will lead to a deeper understanding of these conditions, aiding in the discovery of biomarkers and potential therapeutic targets as well as providing effective tools for functional and phenotypic validation enabling the development of precision-based interventions for these pediatric diseases.