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

项目摘要 出生时有结构性出生缺陷的儿童患儿科癌症的风险增加， 在这两种疾病之间有共同的遗传途径。然而，研究这些疾病可能具有挑战性 由于可用的儿科数据有限。模式生物越来越多地被用来理解 人类疾病的遗传基础，为功能和表型验证以及 发现潜在的生物标志物和治疗靶点。加布里埃拉米勒儿童第一数据资源中心 目前拥有人类儿科癌症和出生缺陷数据集，但缺乏有价值的模型 生物体数据。这项提案的总体目标是提供重点文献策展的鼠标和 斑马鱼疾病模型的儿童癌症和结构性出生缺陷，以增加模型的可用性 生物体数据，并提供与癌症和结构性出生缺陷相关的所有模型生物体数据的访问 基因组资源联盟具体目标1是提供动物模型的集中文献管理 与儿童癌症和结构性出生缺陷有关的疾病。具体而言，a）集中的文献策展 小鼠和斑马鱼基因的研究以及儿童癌症和结构性出生缺陷的模型， 进行;和B）小鼠和斑马鱼疾病和表型本体和术语关系将 扩展到支持策展和跨物种分析。具体目标2是提供定制搜索 与儿童癌症和结构相关的联盟模型生物基因和疾病模型数据门户 出生缺陷具体而言，a）将创建联盟数据的基因和疾病页面门户， 与儿童癌症和结构性出生缺陷有关的基因、疾病模型和文献资料; 和B）将提供关于疾病模型的可用性和使用这些模型的研究人员的信息。 利用与儿童癌症和结构性出生缺陷相关的模式生物数据填补知识空白 将导致对这些疾病的更深入了解，有助于发现生物标志物和潜在的 治疗目标，并提供有效的工具，功能和表型验证，使 为这些儿科疾病制定精确的干预措施。

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.