Genome Center for Alzheimer's Disease (GCAD)

总体项目摘要 阿尔茨海默病（AD）影响美国580万人，并且是一种巨大的疾病。 对患者、护理人员和经济造成负担。无疾病缓解治疗或 预防措施是存在的，我们需要更好地了解这种疾病， 战略布局基因发现是候选治疗靶点的一个来源。的一个来源 阿尔茨海默病测序项目（ADSP）是一个国家研究所， 自2012年以来，NIA计划对AD受试者的基因组和外显子组进行测序， 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。在上一个资助周期中，GCAD处理了所有AD相关的测序数据， 为AD研究协调遗传数据。这一更新是为了应对 ADSP序列数据的复杂性，新类型数据的采集，以及扩展 正在进行的分析类型。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 功能性基因组学数据，分析准备就绪。除了AD，GCAD还将与 AD相关疾病（ADRD）的数据。其中包括额颞叶痴呆症（FTDs）， 进行性核上性麻痹（PSP）、皮质基底节变性（CBD）、路易体痴呆 (LBD)和帕金森病伴痴呆（PD-d）。 在Y 6 -10资助期间，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研究人员和一般科学界。 GCAD将与美国和非美国团体合作，通过促进合作来分析数据。 环境，提供基础设施支持。GCAD还将汇集和协调 功能基因组学数据，这将是不可或缺的，以确定基因作为候选药物的目标。 该研究计划将导致一个高质量，全面，协调的遗传收集， 和功能数据，以及详细的支持资源，包括文档和优化的 计算机代码这些资源对整个AD研究界都是非常宝贵的。

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.