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.

项目这和和结构性的获得窝藏评估临床到诊断药品' 目标概括目前的项目名为“相关结构变异的功能研究” 精神分裂症”提出对一类与精神分裂症相关的基因组变异进行研究精神分裂症风险，“结构变异”，采用两种方法：首先，功能。将在死后大脑样本中研究大脑水平的变异来自精神分裂症患者和正常健康对照的第二，患者。将招募特定的结构变体进行临床评估，包括这项研究将允许神经生物学和认知。可能有贡献的一类重要基因组变异的表征拟议的调查有可能改善精神分裂症的风险。精神分裂症的发病率以及通过“精准治疗”改进的治疗方案通过潜在的遗传变异对患者进行分层的方法，以更有效地现有的和新颖的疗法。