The Jackson Laboratory Center for Precision Genetics

总体项目总结 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，经过量身定制，以尽可能接近地匹配 饱受折磨的病人。通过由合作的临床专家、患者、倡导者发起的提名过程 或基金会，JCPG指导委员会将选择开发和临床前模型并确定其优先顺序 数据收集。JCPG将利用JAX在生物信息学、哺乳动物方面的长期专业知识 遗传学和疾病建模，以整合和优化现有资源、服务和基础设施，以创建 为生物医学界开发精确的小鼠模型的管道。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、遗传学技术 不同疾病领域的专家和许多临床合作者。这支队伍不仅汇聚了广泛的 在一系列人类疾病领域的专业知识，以及在运营一系列 大规模公共资源服务。该小组已被证明有能力与临床专家有效地合作 在疾病建模需求出现时识别和描述它们，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。 联合联络小组的活动力求实现以下五个目标。1.组装和提炼一个全面的、 可扩展且灵活的管道，用于生成和表征精确的人类老鼠模型 疾病。2.建立数据分析和传播基础设施，促进NEXT-- 使用面向公众的交互式流程生成预测模型。(三)加快发展。 将患者数据与新的精确动物模型联系起来，为临床前提供信息，从而实现新的精确治疗 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展项目 提名和项目管理基础设施，扩大和便利获取联合专家小组所有资源 由公众和生物医学界推广和分发新的小鼠模型 基础设施。5.通过将JCPG与其他JAX计划、资源和外部- 这将有助于建立一个面向服务的模式，从而建立一个可扩展的、财务上可持续的发展模式。

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.