Genetics Core

遗传学核心

基本信息

批准号：
10224298
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/10224298
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 Mission 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 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 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.

项目摘要——遗传学核心遗传学核心旨在将尖端基因组技术整合到研究中研究人员的计划，以增强对智力和发展的理解残疾 (IDD) 并开发未来的治疗方法我们的 IDDRC 的转化使命。包括支持旨在确定 IDD 遗传原因的研究，这些研究将提供信息预后信息、复发风险咨询、相关医疗监测此外，我们还促进了表征的努力。对环境和遗传损伤的表观遗传、转录组和蛋白质组反应使用源自患者并经过基因组编辑的细胞和动物参与 IDD 发病机制我们的转化使命促进了高度互动服务的发展。核心的目标是提供信息和实现这些目标的组件。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、登记和样本采集（血液、唾液、皮肤、尿液），以及靶向、外显子组和基因组测序，用于大规模的初步发现和验证 2. 通过表达阵列和 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. 通过基因组工程的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类器官的分化方案。