Genetics Core

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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.