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Genetic Analysis and Manipulation Core (GAEC)

遗传分析和操作核心 (GAEC)

基本信息

批准号：
10239466
负责人：
CLIFFORD J WOOLF
金额：
$ 29.6万
依托单位：
BOSTON CHILDREN'S HOSPITAL
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-07-22 至 2026-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10239466
关键词：
Address Adopted Animal Model Bioinformatics Biological Biological Assay Biology Boston CRISPR/Cas technology Cell model Cells Clinical Clustered Regularly Interspaced Short Palindromic Repeats Consult Consultations Core Facility Correlation Studies Cre driver Cryopreservation DNA DNA purification DNA sequencing Data Analyses Development Developmental Disabilities Dideoxy Chain Termination DNA Sequencing Disease Disease model Experimental Designs Functional disorder Gene Expression Gene Expression Profiling Gene Targeting Generations Genes Genetic Genetic Models Genome Genotype Goals Human Individual Intellectual and Developmental Disabilities Research Centers Intellectual functioning disability Knock-in Mouse Knock-out Link Measures Methodology Modeling Molecular Mouse Cell Line Mus Mutation Mutation Detection Patient Recruitments Pediatric Hospitals Phenotype Physiology Plasmids Point Mutation Postdoctoral Fellow Pre-Clinical Model Proteins Quality Control Reporter Research Personnel Research Project Grants Resources Scientist Services Specimen Structure Techniques Technology Testing Therapeutic Therapeutic Intervention Time Tissues animal model development base bioinformatics tool clinical trial readiness cost cost effective developmental disease digital experimental study gene discovery genetic analysis genetic manipulation genetic testing genomic tools human model induced pluripotent stem cell mouse genome mouse model nano-string nervous system development neurodevelopment new technology next generation sequencing novel patient oriented potential biomarker single-cell RNA sequencing tool transcriptomics variant detection

项目摘要

ABSTRACT The Genetic Analysis and Editing Core (GAEC) provides cost-effective, state-of-the-art molecular tools and consulting/bioinformatic services to IDDRC investigators for 1). Sequencing DNA at all scales, 2). Development of gene editing strategies for cellular and animal models of human neurodevelopmental disease, and 3). Quantitative analyses of gene expression in normal and diseased cells and tissues. GAEC offers services through its Genetic Analysis Group (GAG) and the Gene Editing Group (GEG). The GAG offers Sanger sequencing to validate plasmid constructs, sequence PCR products and for all molecular experiments requiring DNA sequencing, and a full suite of assays and tools for genomic-level analysis, starting with high throughput DNA purification, quantification and quality control assays, analytical DNA testing including genotyping in low, medium and high throughput formats, Sanger and next generation sequencing (NGS), structural variant detection, and low, medium and high throughput gene expression studies including single cell transcriptomics. Bioinformatic support is also provided. The GEG enables the development of animal models of human IDDs utilizing the latest gene targeting approaches and specializes in gene editing of the mouse genome via CRISPR/Cas9 (Clustered regularly interspaced short palindromic repeat)/(CRISPR associated protein) which enables generation of novel gene-edited mouse lines with point mutations, insertions or deletions in a single step. A cryopreservation service is also offered as well as advice on editing strategies and genotyping. Consolidation of these overlapping analytic and editing technologies within a single core facility serving multiple investigators allows individual investigators access to specialized techniques and to use these to identify IDDRC related mutations, model these in mice and cell lines, and measure changes in gene expression in tissues or at a single cell level. The combination of two pre-existing cores into a single integrated core brings their overlapping activities into better alignment and offers a more comprehensive and complete service to IDDRC investigators.

摘要