Genome Center for Alzheimer's Disease (GCAD)

阿尔茨海默病基因组中心 (GCAD)

基本信息

批准号：
10388085
负责人：
GERARD DAVID SCHELLENBERG
金额：
$ 400.45万
依托单位：
UNIVERSITY OF PENNSYLVANIA
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-04-15 至 2026-03-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10388085
关键词：
ATAC-seq Abbreviations Affect African American population Alleles Alzheimer&apos s Disease Alzheimer&apos s disease related dementia Alzheimer&apos s disease risk Artificial Intelligence Asian population Award Benchmarking Caregivers Caribbean Hispanic Cells ChIP-seq Clinical Cognitive Collection Communities Computer software Copy Number Polymorphism Data Data Analyses Data Collection Data Set Disease Documentation Drug Targeting Elderly Environment Epigenetic Process Equilibrium Ethnic group European Fostering Frontotemporal Dementia Funding Genes Genetic Genetic Diseases Genome Genomics Goals Grant Hi-C Individual Infrastructure International LGR5 gene Lead Lewy Body Dementia Machine Learning Maps Methods Methylation Molecular Conformation National Heart, Lung, and Blood Institute National Human Genome Research Institute National Institute on Aging Not Hispanic or Latino Parkinson&apos s Dementia Pathway interactions Patients Persons Phase Precision Medicine Initiative Predisposition Prevention Process Progressive Supranuclear Palsy Proteomics Public Health Quality Control Research Research Personnel Resources Risk Factors Sampling Scientist Sequence Alignment Single Nucleotide Polymorphism Source Systems Analysis Trans-Omics for Precision Medicine United States Variant Work base cognitive system collaborative environment computer code computing resources corticobasal degeneration data repository deep learning deep neural network drug candidate exome exome sequencing file format functional genomics gene network genetic variant genome analysis genome wide association study genome-wide linkage genomic data insertion/deletion mutation metabolomics neural network novel therapeutic intervention phenotypic data prevent programs quality assurance reference genome therapeutic candidate therapeutic target trait transcriptome sequencing whole genome

项目摘要

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.

项目总体概要阿尔茨海默病 (AD) 影响着美国 580 万人，是一种巨大的疾病没有疾病缓解治疗或经济负担。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基因发现是候选治疗靶点的来源之一。遗传目标是阿尔茨海默病测序项目 (ADSP)，这是一个国家研究所老龄化 (NIA) 计划自 2012 年起对 AD 受试者的基因组和外显子组进行测序，认知正常的老年人对照。阿尔茨海默病基因组中心 (GCAD) 是该疾病的分析协调中心 ADSP。在上一个资助周期中，GCAD 处理了所有与 AD 相关的测序数据。这种更新是对 AD 研究的统一遗传数据的回应。 ADSP序列数据的复杂性、新型数据的采集和扩展除了序列数据之外，GCAD 还将协调正在执行的分析类型。 GCAD 将提供完全质量控制和注释的遗传和功能基因组学数据。可供分析的功能基因组学数据除了 AD 之外，GCAD 还可以使用。 AD 相关疾病 (ADRD) 的数据，包括额颞叶痴呆 (FTD)、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 Y6-10 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，通过促进协作来分析数据环境，并提供基础设施支持，GCAD 也将进行组装和协调。功能基因组学数据对于识别候选药物靶点的基因至关重要。该研究计划将导致高质量、全面、协调的遗传学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对于整个 AD 研究界来说都是无价的。