Genetics Core

项目概要-遗传学核心 遗传学核心旨在将尖端的基因组技术整合到研究中 研究人员的计划，以提高对智力和发展的理解 残疾人（IDD）和开发未来的治疗方法。我们IDDRC的翻译使命 包括支持旨在确定缺碘症遗传原因的研究， 预后信息，复发风险咨询，相关医疗监测 并发症和支持性治疗。此外，我们促进努力， 表观遗传学、转录组学和蛋白质组学对环境和遗传损伤的反应 使用患者衍生和基因组编辑的细胞和动物 模型我们的翻译使命促进了高度互动服务的发展 为这些目标提供信息并实现这些目标的组件。核心的目标是提供 支持：1.通过人类受试者方案开发和IRB发现IDD基因 批准、参与者招募、同意、入组和样本采集（血液，唾液，皮肤， 尿液），靶向，外显子组和基因组测序，用于大规模的初步发现和验证 队列; 2.通过表达阵列和基因芯片研究IDD生物学机制的功能基因组学 RNA测序，染色质结构和功能测定，蛋白质组学和代谢组学， 以及批量和单细胞分析;以及3.通过基因组工程建立细胞和动物模型 创建细胞和动物模型，并评估表型，iPSC创建， 用于神经系统细胞类型和类器官的分化方案。

PROJECT SUMMARY – GENETICS CORE The Genetics Core is designed to integrate cutting-edge genomic technologies into the research programs of investigators, to enhance the understanding of Intellectual and Developmental Disabilities (IDD) and develop future treatments. The translational mission of our IDDRC includes supporting research aimed at identifying genetic causes of IDDs that will inform prognostic information, recurrence risk counseling, monitoring for associated medical complications, and supportive treatments. Further, we facilitate efforts to characterize epigenetic, transcriptomic, and proteomic responses to environmental and genetic insults involved in IDD pathogenesis using patient derived and genome-edited cellular and animal models. Our translational mission has engendered the development of highly interactive service components that both inform and enable these goals. The aims of the Core are to provide support for: 1. IDD gene discovery through human subjects protocol development and IRB approval, participant recruitment, consent, enrollment and sample collection (blood, saliva, skin, urine), and targeted, exome, and genome sequencing for initial discovery and validation in large cohorts; 2. Functional genomics of IDD biological mechanisms through expression arrays and RNA-sequencing, chromatin structure and functional assays, proteomics and metabolomics, and bulk and single cell analyses; and 3. Cell and animal models through genome engineering to create cellular and animal models and evaluate phenotypes, iPSC creation, and differentiation protocols for nervous system cell types and organoids.