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Innovation through gene discovery
In 2010 the Great Ormond Street Hospital (GOSH) Biomedical Research Centre (BRC) of the National Institute for Health Research (NIHR) funded the development of the Centre for Translational Research-GOSgene to facilitate rapid gene identification in uncharacterised genetic diseases.
GOSgene brings UCL/ICH research expertise to PIs and clinicians working with congenital disorders to enable the discovery of new genes. Our initiative ultimately supports genetic counselling, helps improving diagnostic testing and will guide further functional analysis aimed at understanding the pathogenesis of disease and improving patients’ management or developing novel therapies.
GOSgene provides an infrastructure and a step-by-step guidance for selected projects involving linkage analysis and/or next generation sequencing (NGS). We offer a comprehensive and flexible service from clinical samples to target gene identification.