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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：
10600557
负责人：
Rebecca Birnbaum
金额：
$ 3.25万
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：
2022
资助国家：
美国
起止时间：
2022-08-30 至 2023-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10600557
关键词：
Affect Area Autopsy Behavior Biological Biological Assay Brain Caring Cell Line Clinic Clinical Clinical Data Clinical Research Clinical assessments 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 Medicine 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 Resolution 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 personalized approach pleiotropism polygenic risk score 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 The with with structural obtained harboring assessment clinical to diagnosis medicine' target SUMMARY current project titled “ A Functional Investigation of Structural Variants Associated Schizophrenia ” proposes the investigation of a class of genomic variants associated schizophrenia risk, `structural variants', using two approaches. First, t he function of variants will be investigated at the level of the brain, in post-mortem brain samples from patients with schizophrenia and normal healthy controls. Second, patients specific structural variants will be recruited for clinical evaluation, including an of behavior and cognition. This study will allow for the neurobiological and characterization of an important class of genomic variants that may be contributory schizophrenia risk. The proposed investigation has the potential to lead to improved of schizophrenia, as well as improved treatment options, through a `precision approach of stratifying patients by underlying genetic variants, to more effectively existing and novel therapeutics.

项目