Core E: Omics Core

组学核心摘要 由Sid O‘Bryant博士和Mark Mapstone博士领导的Omics Core(Core E)将使用先进的方法进行 代表所有系统生物学水平的基于流体的生物标记物的最新定量；来自基因组 将代谢组用于拟议的项目并与更广泛的科学界分享。我们会 从外周血中获取基因组、转录组、蛋白质组和代谢组学信息 作为我们既定临床方案的一部分，从我们的参与者那里收集脑脊液(CSF)。外围 血液是一种可访问的基质，与采集相关的风险很小，因此更适合于 翻译应用，而CSF是一种中枢神经系统特异性基质，对AD等中枢神经系统疾病具有高度特异性 DS.我们将使用有针对性的方法从这些矩阵中量化已知标记 初步工作，我们将使用无针对性的方法来量化各种其他潜在的标记。这 组合方法将提供最高的可能性来捕获最有效和最可靠的基于流体的 生物标志物和丰富的数据集，供我们的团队和周围其他合格的团队发现新的生物标志物 世界。核心由在基因组学和转录组学方面拥有专业知识的世界级科学家代表(Lee， Kumberh、Feingold、Cruchaga、Harari)、表观基因组学(Tycko)、蛋白质组学(O‘Bryant、Fagan)和代谢组学 (Mapstone，Cheema，Macciardi)。

Omics Core Abstract The Omics Core (Core E), led by Drs. Sid O’Bryant and Mark Mapstone will use advanced methods to conduct state of the art quantitation of fluid-based biomarkers representing all levels of systems biology; from the genome to the metabolome for use in the proposed projects and to share with the broader scientific community. We will derive genomic, transcriptomic, proteomic, and metabolomic information from peripheral blood and cerebrospinal fluid (CSF) collected from our participants as part of our established clinical protocol. Peripheral blood is an accessible matrix with only minor risks associated with collection and would be preferred for translational applications, while CSF is a CNS-specific matrix with high specificity for CNS disorders like AD in DS. We will employ targeted approaches to quantify known markers from these matrices based on our preliminary work and we will use untargeted methods to quantify a variety of other potential markers. This combined approach will provide the highest likelihood of capturing the most valid and reliable fluid-based biomarkers and a rich dataset for new biomarker discovery by our group and other qualified groups around the world. The Core is represented by world class scientists with expertise in genomics and transcriptomics (Lee, Kamboh, Feingold, Cruchaga, Harari), epigenomics (Tycko), proteomics (O’Bryant, Fagan), and metabolomics (Mapstone, Cheema, Macciardi).