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A Functional Investigation of Structural Variants Associated with Schizophrenia

与精神分裂症相关的结构变异的功能研究

基本信息

批准号：
10260414
负责人：
Rebecca Birnbaum
金额：
$ 19.07万
依托单位：
ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-09-25 至 2023-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10260414
关键词：
Affect Area Autopsy Behavior assessment Biological Biological Assay Brain Caring Cell Line Clinic Clinical Clinical Data Clinical Research Cognition Collection Complex Computational Biology Copy Number Polymorphism DNA sequencing Data Diagnosis Disease Electronic Health Record Environment Environmental Risk Factor Epilepsy Etiology Family Future Genes Genetic Genetic Polymorphism Genetic Research Genetic Risk Genomic Segment Genomics Genotype Goals Heart Diseases In Vitro Individual Intellectual functioning disability Investigation Laboratory Research Lead Link Measures Medical Medical Genetics Mental disorders Mentors Molecular Morbidity - disease rate Neurobehavioral Manifestations Neurobiology Outcome Pathway interactions Patient Recruitments Patients Pharmaceutical Preparations Pharmacotherapy Phenotype Population Positioning Attribute Prefrontal Cortex Prospective Studies Psychiatrist Psychiatry Public Health Reporting Research Personnel Retrospective Studies Risk Sampling Schizophrenia Source Structure Syndrome System Tandem Repeat Sequences Training Training Programs Translating Variant autism spectrum disorder base biobank brain tissue career clinical investigation cohort developmental disease experience forward genetics genetic analysis genetic approach genetic variant genome wide association study genome-wide genomic locus improved loved ones medical schools medical specialties neuroimaging neuropsychiatric disorder novel novel therapeutics patient stratification pleiotropism polygenic risk score precision medicine professor psychogenetics recruit research clinical testing research study response risk variant schizophrenia risk skills training opportunity transcriptome transcriptome sequencing whole genome

项目摘要

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.

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。