Genetics and Genomics Core

西奈山ADRC（佐野）：遗传学和基因组学核心（核心F）-研究摘要 一百年前，痴呆症是根据其临床表现进行分类的， 神经病理学21世纪的希望是我们将能够对这些疾病进行分类 根据遗传原因或遗传风险因素，基于病因学而非病理学的分类。期间 在过去的三十年里，许多基因被证明是常染色体显性形式的早发性痴呆的原因 疾病。这些罕见的疾病为更常见的变异的发病机制提供了巨大的洞察力 同样的疾病。1993年，载脂蛋白E（APOE）基因的多态性被确定为第一个 AD的遗传风险因素。APOE 4等位基因的剂量依赖性效应现已成为一个重要变量 在所有的AD研究中。在过去的十年中，全基因组关联研究和下一代测序 研究已经开始确定AD的许多新的危险因素。遗传学和基因组学核心的目标 ISMMS ADRC将提供所有ADRC参与者的基因数据和生物样本。我们会得到血液 ADRC参与者的样本。一份血液样本将被送往NCRAD，在那里它将提供给所有 社区，并将纳入国家AD遗传学计划，如正在进行的全基因组关联 研究（GWAS）和全基因组/外显子组测序计划。第二根管将保留在局部。为 DNA.所有ADRC受试者的血浆和APOE基因型也将可用。许多与会者还将 拥有GWAS、外显子组阵列和/或整个外显子组/基因组序列数据，通过国家和国际 项目和ADRC附属项目。这些数据将存储在ISMMS ADRC主数据库中， 应要求提供给调查人员。核心将支持项目和其他核心以及ADRC附属 老龄化和痴呆症项目。在这项新的应用中，我们将开始储存PBMC和试点血浆生物标志物 收集以实现外周组织中的新型生物标志物项目。

Mount Sinai ADRC (Sano): Genetics and Genomics Core (Core F) – Research Summary One hundred years ago dementing illnesses were classified based upon their clinical presentation and neuropathology. The promise of the twenty first century is that we will be able to classify these same diseases by the genetic cause or genetic risk factors, a classification based upon etiology not symptomatology. During the last three decades many genes have been shown to cause autosomal dominant forms of early onset dementing illnesses. These rare disorders have provided enormous insight into the pathogenesis of more common variants of the same diseases. In 1993, a polymorphism in the apolipoprotein E (APOE) gene was identified as the first genetic risk factor for AD. A dose-dependent effect of the APOE4 allele has now become an important variable in all studies of AD. During the last ten years genome-wide association studies and next generation sequencing studies have begun to identify many novel risk factors for AD. The goal of the Genetics and Genomics Core of the ISMMS ADRC is to provide genetic data and biospecimens on all ADRC participants. We will obtain blood samples on ADRC participants. One blood sample will be sent to NCRAD, where it will be available to the entire community and will be included in national AD Genetics initiatives such as ongoing genome-wide association studies (GWAS) and whole genome/exome sequencing projects. The second tube will be retained locally. For DNA. Plasma and APOE genotype will also be available on all ADRC participants. Many participants will also have GWAS, exome array and/or whole exome/genome sequence data through national and international initiatives and ADRC affiliated projects. This data will be stored in the master ISMMS ADRC database and provided to investigators upon request. The Core will support projects and other cores as well as ADRC affiliated ageing and dementia projects. New in this application, we will begin to bank PBMCs and pilot plasma biomarker collection to enable novel biomarker programs in peripheral tissues.