GEARs Combining advances in Genomics and Environmental science to accelerate Actionable Research and practice in ASD

GEARs 结合基因组学和环境科学的进步，加速 ASD 的可操作研究和实践

基本信息

批准号：
10523737
负责人：
Christine Ladd-Acosta
金额：
$ 241.08万
依托单位：
JOHNS HOPKINS UNIVERSITY
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：
2022-09-06 至 2027-08-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10523737
关键词：
16p11.2 3-Dimensional Address Air Pollution Biological Biological Models Brain Cell Line Characteristics Collaborations Communication Communities Data Collection Development Diagnosis Disease Environment Environmental Impact Environmental Risk Factor Environmental Science Etiology Evaluation Experimental Models Family Folic Acid Fostering Future Gene Mutation Genetic Genetic Risk Genomic approach Genomics Health Heavy Metals Heritability In Vitro Individual Infection Inflammation Infrastructure Investigation Laboratories Lead Manuscripts Measures Mental Health Modeling National Human Genome Research Institute Network Infrastructure Neurodevelopmental Disorder Obesity Organoids Outcome Pathway Analysis Persons Phenotype Population Population Study Process Public Health Publishing Research Research Personnel Resources Risk Sample Size Science Severities Shapes Site Sleep Social Interaction Statistical Methods Structure Testing Time Translating Translations Vitamins Work autism community autism spectrum disorder autistic base cohort comorbidity data harmonization design disorder risk experience experimental study gastrointestinal symptom gene environment interaction genetic variant genome sciences genome wide association study genome-wide high risk improved in vitro testing individuals with autism spectrum disorder induced pluripotent stem cell neuroinflammation neurophysiology novel outreach phenotypic data physical conditioning prenatal psychogenetics rare variant repetitive behavior social communication success synaptogenesis trait translational approach

项目摘要

ABSTRACT: This application seeks to establish a network for the investigation of gene-environment interaction in autism spectrum disorder (ASD) and outcomes among people with ASD. Much like the Psychiatric Genetics Consortium launched a unifying infrastructure for scaling genome-wide association studies in ASD, the Combining advances in Genomics and Environmental science to accelerate Actionable Research and practice in ASD (GEARs) Network effort will allow a centralized mechanism for GxE activities in ASD across multiple studies. Robust evaluation of GxE requires a large sample size, harmonized data on both genetics and the environment, and novel statistical methods for measuring and summarizing environments, genetics, and phenotypes. The GEARs Network seeks to compliment work in population studies with experimental models leveraging 3D brain organoids, reflecting multiple ASD-associated genetics backgrounds on which the impact of environmental risk can be evaluated on ASD-relevant neurophysiology endpoints. Finally, the GEARs Network will develop and implement a pipeline for outreach and dissemination of GxE findings. The successes of ASD genomics, emerging environmental evidence, and models of effective network collaborations for large-scale efforts make this the ideal time to create a GxE infrastructure for ASD research. Our team is uniquely poised to lead the GEARs Network, creating this opportunity at scale for the first time, and with a focus on both etiology and health outcomes among people with ASD. We have experience in leading multi-site collaborations, expertise in population and laboratory science, and required partnerships to foster communication across researchers and with the broader ASD community. This translational approach, informed by public health, will lead to improved understanding of both causes and consequences of ASD.

抽象的：该应用程序旨在建立一个网络，以调查自闭症中基因环境相互作用频谱障碍（ASD）和ASD患者的结果。很像精神遗传学财团推出了一个统一的基础设施，用于在ASD中扩展全基因组关联研究，结合基因组学和环境科学的进步，以加速可行的研究和在ASD（齿轮）网络工作中练习将允许在ASD中的GXE活动的集中机制多个研究。 GXE的强大评估需要大量样本量，统一数据环境以及测量和总结环境，遗传学的新型统计方法和表型。齿轮网络旨在通过实验来补充人口研究的工作利用3D脑器官的模型，反映了多个与ASD相关的遗传学背景环境风险的影响可以评估与ASD相关的神经生理学终点。最后， Gears Network将开发和实施一条拓展和传播GXE发现的管道。这 ASD基因组学，新兴的环境证据和有效网络模型的成功大规模努力的合作使这是为ASD研究创建GXE基础架构的理想时机。我们的团队有独特的准备领导齿轮网络，首次创造了这个机会，并着重于ASD患者的病因和健康成果。我们有经验领导多站点合作，人口和实验室科学方面的专业知识，并需要合作伙伴关系在研究人员和广泛的ASD社区之间建立沟通。这种翻译方法，受公共卫生的了解，将提高人们对ASD的原因和后果的了解。