Core E: Omics Core

组学核心摘要 由Sid O 'Bryant博士和Mark Mapstone博士领导的组学核心（Core E）将使用先进的方法进行 代表系统生物学所有水平的基于流体的生物标志物的最新定量;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。我们将 从外周血中获得基因组、转录组、蛋白质组和代谢组信息， 作为我们既定临床方案的一部分，从我们的参与者中收集脑脊液（CSF）。外围 血液是一种可获得的基质，与采集相关的风险很小， CSF是CNS特异性基质，对CNS疾病如AD具有高度特异性， DS.我们将采用有针对性的方法，根据我们的研究，从这些矩阵中定量已知的标志物。 我们将使用非靶向方法来量化各种其他潜在的标记物。这 组合的方法将提供捕获最有效和可靠的基于流体的最高可能性 生物标志物和丰富的数据集，供我们小组和其他合格的小组发现新的生物标志物。 世界核心是由世界一流的科学家与基因组学和转录组学的专业知识（李， Kamboh、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).