Genome Center for Alzheimer's Disease (GCAD)

整体项目总结 阿尔茨海默病(AD)在美国影响着580万人，是一种巨大的 给病人、照顾者和经济带来负担。没有改善疾病的治疗方法或 预防措施是存在的，我们需要更好地了解这种疾病和新的治疗方法 战略。基因发现是候选治疗靶点的来源之一。其中一个来源 遗传目标是阿尔茨海默病测序项目(ADSP)，该项目是美国国家科学研究院 老龄化(NIA)计划自2012年起对AD患者和 认知正常的老年对照组。 阿尔茨海默病基因组中心(GCAD)是阿尔茨海默病的分析协调中心 ADSP。在之前的资助周期中，GCAD处理了所有与AD相关的测序数据 用于AD研究的统一基因数据。这次续订是对金额的增加做出的反应 ADSP序列数据的复杂性、新数据类型的收集和扩展 正在执行的分析的类型。除了序列数据，GCAD还将协调 功能基因组学数据。GCAD将提供完全质量控制和注释的遗传和 已做好分析准备的功能基因组数据。除了AD之外，GCAD还将与 AD相关障碍数据(ADRD)。这些包括额颞部痴呆(FTD)， 进行性核上性瘫痪(PSP)、皮质基底膜变性(CBD)、路易体痴呆 (LBD)和帕金森氏病伴痴呆症(PD-d)。 在Y6-10资助期，GCAD将组装和协调全基因组/全外显子组 测序数据，并将其提供给ADSP调查人员和普通科学界。 GCAD将与美国和非美国组织合作，通过促进协作来分析数据 环境，并提供基础设施支持。GCAD还将组装和协调 功能基因组学数据，这将是确定候选药物靶点基因不可或缺的一部分。 该研究计划将导致高质量、全面、协调的基因收集 和功能数据，以及详细的支持资源，包括文档和优化 计算机代码。这一资源对整个AD研究社区来说将是无价的。

Overall Project Summary Alzheimer’s disease (AD) affects 5.8 million people in the United States, and is an immense burden on patients, caregivers and on the economy. No disease-modifying treatments or preventions exist, and we need better understanding of the disease and new therapeutic strategies. Genetic discoveries are one source of candidate therapeutic targets. One source of genetic targets is the Alzheimer’s Disease Sequencing Project (ADSP), a National Institute on Aging (NIA) initiative since 2012 to sequence genomes and exomes of AD subjects and cognitively normal elderly controls. The Genome Center for Alzheimer’s Disease (GCAD) is the analysis coordinating center for the ADSP. In the previous grant cycle, GCAD processed all AD-relevant sequencing data producing harmonized genetic data for AD research. This renewal responds to the increase in the amount and complexity of ADSP sequence data, the collection of new types of data, and an expansion of the types of analysis being performed. In addition to sequence data, GCAD will harmonize functional genomics data. GCAD will provide fully quality-controlled and annotated genetic and functional genomics data that is analysis ready. In addition to AD, GCAD will also work with data for AD related disorders (ADRD). These include frontotemporal dementias (FTDs), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), Lewy body dementia (LBD), and Parkinson’s disease with dementia (PD-d). In the Y6-10 funding period, GCAD will assemble and harmonize whole-genome/whole-exome sequencing data, and provide it to ADSP investigators and the general scientific community. GCAD will work with US and non-US groups to analyze data by fostering a collaborative environment, and providing infrastructure support. GCAD will also assemble and harmonize functional genomics data which will be integral to identifying genes as candidate drug targets. The research plan will lead to a high quality, comprehensive, harmonized collection of genetic and functional data with detailed supporting resources including documentation and optimized computer codes. This resource will be invaluable for the entire AD research community.