A Functional Investigation of Structural Variants Associated with Schizophrenia

项目摘要 目前的项目名为“一个功能性调查的结构变异相关的 精神分裂症”提出了对一类与精神分裂症风险相关的基因组变异的研究， “结构变量”，使用两种方法。首先，结构变体的功能将在 脑水平，在从精神分裂症患者和正常健康人获得的死后脑样品中 对照其次，将招募携带特定结构变异的患者进行临床评价，包括 对行为和认知的评估。这项研究将允许神经生物学和临床 这是一个重要的基因组变异，可能有助于精神分裂症的风险表征。的 拟议的调查有可能导致改善精神分裂症的诊断，以及改善 治疗方案，通过一种“精确医学”的方法，根据潜在的遗传因素对患者进行分层， 变体，以更有效地靶向现有的和新的治疗方法。

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.