The Jackson Laboratory Center for Precision Genetics

项目概要 杰克逊实验室（JAX）精密遗传学中心（JCPG）将开发和传播新的， 精确的小鼠模型，这些模型被定制为尽可能接近地匹配疾病的特征。 折磨病人。通过由临床专家、患者、倡导者发起的提名过程， 或基金会，JCPG指导委员会将选择并优先考虑用于开发和临床前研究的模型， 数据收集。JCPG将利用JAX长期以来在生物信息学、哺乳动物 遗传学和疾病建模，以整合和完善现有的资源，服务和基础设施， 为生物医学界开发精确小鼠模型的管道。这些小鼠模型 然后进入最先进的动物设施进行维护和保护， 分发给世界各地的生物医学和研究实体。 JCPG的专业知识包括计算生物学家，遗传学家，分子生物学家，遗传技术 专家和许多不同疾病领域的临床合作者。这个团队不仅汇集了广泛的 在一系列人类疾病领域的专业知识，但也有广泛的持续经验，在经营一系列的 大型公共资源服务。该小组具有与临床专家有效合作的能力， 识别和描述疾病建模需求，然后创建新的小鼠模型， 不同利益相关者的不同需求，他们需要小鼠模型来开发新的临床 治疗。 JCPG的活动旨在实现以下五个目标。1.收集和完善一个全面的， 可扩展的，灵活的管道，用于生成和表征人类的精确小鼠模型 疾病2.建立数据分析和传播基础设施，促进下一个 使用交互式面向公众的过程生成预测模型。3.加快发展 通过将患者数据与新的精确动物模型联系起来， 研究设计和生成临床试验所需的数据。4.制定和部署一个强有力的外联、项目 提名和项目管理基础设施，扩展并促进对所有JCPG资源的访问 公众和生物医学界，同时促进和分发新的小鼠模型通过现有的 基础设施演进5.通过将JCPG与其他JAX程序、资源和外部集成来提高效率- 面向服务，从而建立一个可扩展的，财务上可持续的模型开发管道。

PROJECT SUMMARY OVERALL The Jackson Laboratory (JAX) Center for Precision Genetics (JCPG) will develop and disseminate new, precise mouse models that are tailored to match, as closely as possible, the disease characteristics of the afflicted patients. Through a nomination process initiated by collaborating clinical experts, patients, advocates or foundations, the JCPG Steering Committee will select and prioritize models for development and preclinical data collection. The JCPG will leverage JAX's long-established expertise in bioinformatics, mammalian genetics and disease modeling to integrate and refine existing resources, services and infrastructure to create a pipeline for development of precision mouse models for the biomedical community. These mouse models will then enter state-of-the-art animal facilities for maintenance and protection as they are prepared for distribution to biomedical and research entities worldwide. The JCPG expertise includes computational biologists, geneticists, molecular biologists, genetics technology experts and many clinical collaborators in diverse disease areas. This team not only brings together broad expertise in a range of human disease areas but also extensive ongoing experience in operating an array of large-scale public resource services. This group has a proven ability to work effectively with clinical experts to identify and delineate disease modeling needs as they emerge and then create new mouse models that serve the varied needs of the diverse set of stakeholders that need mouse models to develop new clinical treatments. The activities of the JCPG seek to achieve the following five goals. 1. Assemble and refine a comprehensive, scalable, and flexible pipeline for the generation and characterization of precision mouse models of human disease. 2. Build a data analysis and dissemination infrastructure that facilitates development of next- generation predictive models using an interactive public-facing process. 3. Accelerate the development of novel, precision therapeutics by linking patient data with new precision animal models to inform preclinical study design and generate the data needed for clinical trials. 4. Develop and deploy a robust outreach, project nomination, and project management infrastructure that expands and facilitates access to all JCPG resources by the public and biomedical community while promoting and distributing new mouse models through existing infrastructure. 5. Gain efficiencies by integrating the JCPG with other JAX programs, resources, and external- facing services and thereby establish a scalable, financially sustainable model development pipeline.