Core G: Genetics & High Throughput Omics

核心G：遗传学和高产量-组学项目摘要 全世界，特别是发达国家的老龄化人口面临着越来越大的负担， 神经退行性疾病，特别是阿尔茨海默病（AD）、额颞叶痴呆（FTD）和其他 AD相关痴呆（ADRD）。遗传学研究极大地促进了我们对这些问题的理解。 复杂的疾病。对AD的孟德尔形式的初步研究导致了对AD基因突变的鉴定， 编码β-淀粉样前体蛋白（APP）、早老素1（PSEN 1）和早老素2（PSEN 2）的基因。 已经鉴定了颗粒蛋白（GRN）、微管相关蛋白Tau（MAPT）和C9 orf 72中的突变 导致FTD。这些疾病的特征是蛋白质错误折叠和聚集， 一些临床和神经病理学特征。21世纪的希望是，我们将 能够根据遗传原因或遗传风险因素对这些疾病进行分类。此外，很明显，研究 除了遗传学，如转录组学，蛋白质组学，或epigegomics，需要充分了解 AD和ADRD的生物学，目的是鉴定新的生物标志物和治疗靶点。目标 的遗传学和高通量组学核心在骑士ADRC是获得，银行和QC 来自Knight ADRC参与者的生物标本（DNA、RNA和血浆）。内核分享这些生物样本 合格的研究人员将为这些样本生成遗传或其他组学数据。核还 存储和协调所有全基因组关联研究（GWAS），全外显子组测序（WES），全基因组测序（GWAS），全基因组测序（WES） Knight ADRC参与者的基因组测序（WGS）、转录组学和蛋白质组学数据， 为了保证数据的完整性和兼容性，以便这些数据可以与科学界共享， 社区

Core G: Genetics and High Throughput -Omics Project Summary Aging populations worldwide, particularly in developed countries, face an increasing burden of neurodegenerative diseases, particularly Alzheimer disease (AD), Frontotemporal dementia (FTD), and other AD-related dementias (ADRDs). Genetic studies have greatly contributed to our understanding of these complex diseases. Initial studies of a Mendelian form of AD resulted in the identification of mutations in the genes encoding β-amyloid precursor protein (APP), Presenilin 1 (PSEN1), and Presenilin 2 (PSEN2). Mutations in Granulin (GRN), Microtubule-Associated Protein Tau (MAPT), and C9orf72 have been identified as causes of FTD. These diseases are characterized by protein misfolding and aggregation, and also share some clinical and neuropathological characteristics. The promise of the twenty-first century is that we will be able to classify these diseases by the genetic cause or genetic risk factors. Furthermore, it is clear that studies beyond genetics, such as transcriptomics, proteomics, or epigegomics, are needed to fully understand the biology of AD and ADRDs, with the intention of identifying novel biomarkers and therapeutic targets. The goal of the Genetics and High Throughput -Omics Core at the Knight ADRC is to obtain, bank and QC biospecimens (DNA, RNA and plasma) from Knight ADRC participants. The Core shares these biospecimens with qualified investigators that will generate genetic or other -omic data for these samples. The Core also stores and harmonizes all genome-wide association study (GWAS), whole exome sequencing (WES), whole genome sequencing (WGS), transcriptomic, and proteomic data generated for Knight ADRC participants in order to guarantee the integrity and compatibility of the data so that these data can be shared with the scientific community.