Biomarker Core

1.总结（生物标志物核心） 生物标志物对于疾病的检测、管理和治疗具有巨大的价值，而且对于 开发新的治疗方法。生物标志物的效用在以下管理中最为明显： 心血管疾病和糖尿病，但生物标志物，特别是预测，容易获得的，仍然是 在神经退行性疾病方面基本上不存在。目前最好的液体生物标志物可用于 阿尔茨海默病（AD）包括：CSF中的Aβ、tau和神经丝，CSF是一种难以在体内收集的生物流体。 健康的、有风险的人群或重复使用。AD的其他生物标志物包括成像方式， 通常非常昂贵或者在个体水平上具有低灵敏度和特异性。核心成员 在无偏见的多组学筛选和数据分析方面有相当丰富的经验，多年来， 发表了许多研究，旨在开发神经退行性疾病和其他疾病的新生物标志物。 在当前ADRC的支持下，核心领导者和合作者使用了来自斯坦福大学的生物标本 ADRC参与者，并产生了广泛的初步数据与公正的深度免疫表型， 蛋白质组学和人类CSF驻留细胞的转录组学，并发现了新的帕金森病（PD） 生物标志物。基于这种专业知识，该生物标志物核心的使命是促进发现新的 AD和PD的生物标志物，以及导致痴呆的病理过程的新生物学 符合国家适应行动方案的核心使命。这将通过收集基因和 来自ADRC参与者的广泛组织来源的分子测量;处理和 通过门户网站和其他手段以可用的格式传播该信息（即，“深 表型数据库”）;收集的信息与临床 和成像数据，以及公共数据库中的信息; 新的数据分析算法和管道。

1. SUMMARY (Biomarker Core) Biomarkers have enormous value for the detection, management, and treatment of disease, but also for the development of novel therapeutics. The utility of biomarkers is most evident in the management of cardiovascular disease and diabetes, but biomarkers, especially predictive, easily obtainable ones, are still largely absent with respect to neurodegenerative diseases. The best fluid biomarkers currently available for Alzheimer’s disease (AD) include; Aβ, tau, and neurofilament in CSF, a biofluid which is difficult to collect in healthy, at-risk populations or on a repeated basis. Other biomarkers for AD include imaging modalities which are often very expensive or have low sensitivity and specificity at the individual level. The members of this core have considerable experience in unbiased multi-omic screens and data analysis and, over the years, have published numerous studies towards developing new biomarkers for neurodegenerative and other diseases. Enabled by the current ADRC, the core leaders and collaborators have used biospecimens from Stanford ADRC participants and generated extensive preliminary data with unbiased deep immune phenotyping, proteomics, and transcriptomics of human CSF resident cells, and discovered novel Parkinson's disease (PD) biomarkers. Based on this expertise, the mission of this Biomarker Core is to facilitate the discovery of novel biomarkers for AD and PD, as well as new biology underlying the pathological processes that lead to dementia in line with the core mission of the NAPA. This will be achieved by pursuing the collection of genetic and molecular measurements from a broad source of tissues from ADRC participants; the processing and dissemination of this information in useable formats through web portals and other means (i.e., “Deep Phenotyping Database”); the analysis and bioinformatics integration of the collected information with clinical and imaging data, as well as information from public databases; and the development and dissemination of new data analysis algorithms and pipelines.