? Functional Genomics Core A critical step in the discovery of disease-related genes is demonstrating the functional effects of putative disease-causing mutations. This is particularly challenging when the protein function is not known or a role for the protein in ocular tissues has not previously been established. Zebrafish (Danio rerio) are a cost-effective model organism to study functional effects of genomic variants. Zebrafish have a number of advantages over other genetic systems for the study of human development and disease and have been used to characterize the basis of many human genetic disorders. Compared with mice, zebrafish husbandry, breeding and genetic manipulation are more efficient and less expensive. The structure and function of the zebrafish eye is similar to humans and zebrafish have been used as an important model organism for the study of genetic and environmental eye diseases including those disorders investigated at the Massachusetts Eye and Ear (MEE). The purpose of the Functional Genomics core is to provide expert assistance using zebrafish as a model system to demonstrate functional effects of human disease-related gene variants and to model human inherited ocular disorders. This is a new core that is addressing a critical need for functional genomics for the vision investigators at MEE heavily engaged in disease gene discovery and characterization. The core will provide zebrafish husbandry and will assist investigators with project planning including morpholino design and design of guide RNAs for CRISPR/cas9 gene editing, training for zebrafish embryo injection and other manipulations and characterization of genetically modified fish.
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