Genetic Architecture of Alzheimer’s disease Proteinopathies

阿尔茨海默病的遗传结构 蛋白质病

• 批准号: 10532581
• 负责人: Carlos Cruchaga
• 金额: $ 31.78万
• 依托单位: UNIVERSITY OF PITTSBURGH AT PITTSBURGH
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-04-15 至 2025-02-28
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10532581
• 关键词: Alzheimer' s Disease; Amyloid; Amyloid beta-42; Amyloid beta-Protein; Bioinformatics; Biological Markers; Clinical; Data; Data Set; Dementia; Genetic; Genetic study; Goals; Nerve Degeneration; Outcome; Pathogenesis; Pathologic; Pathology; Persons; Positron-Emission Tomography; Preventive measure; Public Health; Sampling; Testing; Variant; effective therapy; genetic architecture; genome sequencing; improved; personalized medicine; tau Proteins; whole genome

This is a collaborative study between leading experts in the field to extend our ongoing efforts to delineate the complete genetic basis of the two AD-specific proteinopathies (Aβ and pathologic tau) by whole genome sequencing (WGS) using well-characterized and large amyloid-PET and CSF Aβ42/tau datasets with clinical outcomes of dementia followed by testing the effects of identified significant variants on downstream neurodegeneration markers, and performing extensive bioinformatics and functional studies. The primary objective of this application is to perform and analyze WGS in adequately powered large discovery samples with well-characterized Aβ and tau data along with clinical outcomes of dementia to identify putative functional variants associated with Aβ and tau pathologies.

这是该领域领先专家之间的一项合作研究，旨在扩展我们持续的努力 描述了两种 AD 特异性蛋白病（Aβ 和病理性 tau）的完整遗传基础 使用充分表征的大淀粉样蛋白 PET 和 CSF Aβ42/tau 进行全基因组测序 (WGS) 包含痴呆症临床结果的数据集，然后测试已识别的显着结果的影响 下游神经变性标记物的变异，并进行广泛的生物信息学和 功能研究。该应用程序的主要目标是执行和分析 WGS 动力充足的大型发现样本，具有良好表征的 Aβ 和 tau 数据以及临床数据 痴呆症的结果，以确定与 Aβ 和 tau 病理相关的假定功能变异。