A Functional Investigation of Structural Variants Associated with Schizophrenia

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PROJECT SUMMARY The current project titled “A Functional Investigation of Structural Variants Associated with Schizophrenia” proposes the investigation of a class of genomic variants associated with schizophrenia risk, ‘structural variants’, using two approaches. First, the function of structural variants will be investigated at the level of the brain, in post-mortem brain samples obtained from patients with schizophrenia and normal healthy controls. Second, patients harboring specific structural variants will be recruited for clinical evaluation, including an assessment of behavior and cognition. This study will allow for the neurobiological and clinical characterization of an important class of genomic variants that may be contributory to schizophrenia risk. The proposed investigation has the potential to lead to improved diagnosis of schizophrenia, as well as improved treatment options, through a ‘precision medicine’ approach of stratifying patients by underlying genetic variants, to more effectively target existing and novel therapeutics.