Genetics Core

项目总结--遗传学核心 Genetics Core旨在将尖端基因组技术整合到研究中 提高对知识分子和发展性认识的认识 残疾(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IDDS的遗传原因的研究，该研究将为 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，我们还为以下工作提供便利 对环境和遗传侮辱的表观遗传、转录和蛋白质组反应 利用患者来源和基因组编辑的细胞和动物参与IDD的发病机制 模特们。我们的翻译使命催生了高度互动服务的发展 告知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、招募和样本采集(血液、唾液、皮肤、 尿液)，以及靶向、外显子组和基因组测序，以便在大范围内进行初步发现和验证 通过表达阵列和功能基因组学研究IDD的生物学机制 RNA测序，染色质结构和功能分析，蛋白质组学和代谢组学， 以及整体和单细胞分析；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的创建和 神经系统细胞类型和有机体的分化方案。

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.