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Genetics Core

遗传学核心

基本信息

批准号：
10426316
负责人：
DANIEL DOHERTY
金额：
$ 31.17万
依托单位：
UNIVERSITY OF WASHINGTON
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-07-28 至 2025-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10426316
关键词：
Animal Model Behavior assessment Behavioral Bioinformatics Biological Biological Assay Biological Models Blood Brain imaging Cell model Cells Chromatin Structure Clinical Consent Consultations Counseling Data Development Diagnosis Disease Disease model Doctor of Philosophy Enrollment Ensure Epigenetic Process Evaluation Exposure to Funding Future Gene Chips Genetic Genome engineering Genomics Goals Image Infection Injury Institutional Review Boards Intellectual and Developmental Disabilities Research Centers Intellectual functioning disability Link Messenger RNA Monitor Mutation Nervous system structure Organoids Pathogenesis Pathology Patient Recruitments Patients Phenotype Premature Birth Prevention Procedures Proteomics Recurrence Research Research Design Research Personnel Research Support Resources Risk Saliva Services Skin Technology Toxic Environmental Substances Toxin Translating Urine Validation base cell type cohort cost design diagnostic tool differentiation protocol exome sequencing experience functional genomics gene discovery genetic variant genome editing genome sequencing human genomics human subject improved induced pluripotent stem cell medical complication metabolomics novel novel diagnostics pediatric department prognostic programs protein expression protocol development response sample collection single cell analysis single-cell RNA sequencing stem cell model targeted sequencing targeted treatment tool transcriptome sequencing transcriptomics translational goal variant detection

项目摘要

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.

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这些组件既能为这些目标提供信息，又能实现这些目标。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。