Genetic Analysis and Manipulation Core (GAEC)

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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.