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

管理模型生物表型和疾病模型数据，以扩充 Gabriella Miller Kid 的第一个数据集，以增强发现和治疗开发

• 批准号: 10592437
• 负责人: Cynthia Louise Smith
• 金额: $ 16.03万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-04-01 至 2024-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10592437
• 关键词: Animal Disease Models; Child; Childhood; Clinical Data; Congenital Abnormality; Data; Data Set; Databases; Development; Diagnosis; Disease; Disease Progression; Disease model; FlyBase; Genes; Genetic; Health; Human; Informatics; Information Networks; Information Retrieval; Intervention; Knowledge; Literature; Location; Malignant Childhood Neoplasm; Malignant Neoplasms; Modeling; Mus; Ontology; Outcome; Pathway interactions; Patients; Phenotype; Process; Publications; Rat Genome Database; Reporting; Research; Research Personnel; Retrieval; Risk; Saccharomyces; Structural Congenital Anomalies; Therapeutic Intervention; Validation; Variant; WormBase; Zebrafish; application programming interface; biomarker discovery; data modeling; data resource; gene function; genome database; genome resource; human disease; insight; interest; model organism; mouse genome; phenotypic data; potential biomarker; therapeutic development; therapeutic evaluation; therapeutic target; tool; web interface

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.

项目概要 患有结构性先天缺陷的儿童患小儿癌症的风险增加，这意味着 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 有机体数据。该提案的总体目标是提供关于小鼠和 儿童癌症和结构性出生缺陷的斑马鱼疾病模型，以提高模型的可用性 有机体数据，并提供与癌症和结构性出生缺陷相关的所有模型有机体数据的访问 在基因组资源联盟中。具体目标 1 是提供动物模型的重点文献管理 与儿童癌症和结构性出生缺陷相关的疾病。具体来说，a）有针对性的文献管理 与儿童癌症和结构性出生缺陷相关的小鼠和斑马鱼基因和模型将 实施; b) 小鼠和斑马鱼疾病以及表型本体和术语关系将 扩展到支持管理和跨物种分析。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体基因和疾病模型数据门户 出生缺陷。具体来说，a) 将创建联盟数据的基因和疾病页面门户，访问 与儿童癌症和结构性出生缺陷相关的基因、疾病模型和文献信息； b) 将提供有关疾病模型的可用性和使用这些模型的研究人员的信息。 使用与儿童癌症和结构性出生缺陷相关的模型生物数据来填补知识空白 将导致对这些条件的更深入了解，有助于发现生物标志物和潜力 治疗靶点以及提供有效的功能和表型验证工具，使 开发针对这些儿科疾病的精准干预措施。