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.
Schizophrenia is a common neuropsychiatric disorder that affects approximately 1% of the population worldwide, with a significant global public health burden; it can exact a devastating toll on patients who suffer from the illness, their families and loved ones, as well as on systems that attempt to care for afflicted patients. Recently, the biological and molecular underpinnings of schizophrenia are being increasingly elucidated through large scale genetic analyses. The current study undertakes a molecular and clinical investigation of a specific type of variant that increases schizophrenia risk, structural variants, thereby potentially leading to improved schizophrenia diagnosis and treatment options.
