痴呆与轻度认知障碍的流行病学、发病机制和诊治应用研究——2013年度国家科学技术进步二等奖

This study was awarded with The Second Grade National Prize for Science and Technology Progress——The application study on epidemiology, pathogenesis, diagnosis and treatment of mild cognitive impairment and dementia

痴呆与轻度认知障碍是我国卫生领域重大疾病,给社会和家庭带来了沉重负担。本项目在国家和省部级40余项基金资助下,对痴呆与轻度认知障碍的流行病学、发病机制和临床诊治进行了系统的研究,建立了国内最系统完整的痴呆与轻度认知障碍的临床信息和生物标本库;明确了中国人群阿尔茨海默病(Alzheimer's disease,AD)相关的遗传致病/易感基因和重要蛋白功能并在国际首次报道了中国人家族性AD早老素1基因新突变;发现和明确了AD早期诊断的生物学和影像学标志物;主持制定了痴呆与认知障碍诊治指南;研发了抗AD新药,构建了药物研发技术平台。本项目提高了我国痴呆和轻度认知障碍诊治水平,取得了显著的社会效益。

Dementia and mild cognitive impairment are the most common neurodegenerative disease and the leading cause of dementia in the elderly. Sponsored by over 40 national and provincial funds, we have obtained tremendous achievements through all these years＇ hard work, which included ： （ 1 ） A large complete system of clinical information and biological specimen dataset of dementia and mild cognitive impairment of Chinese population. （2） The study confirmed the genetic/susceptibility genes and major protein functions associated with Alzheimer＇s disease（AD） and reported for the first time the novel presenilin 1 （V97L and A136G） mutation and SNPs in over 20 susceptibility genes associated with sporadic AD in Chinese population. （3） The study identified and confirmed the biomarkers and images for early diagnosis of AD. （4） The guidelines for the diagnosis and treatment of dementia and cognitive disorders. （5） New drugs for AD were developed and the technology platform for drug was constructed. This project improved the diagnostic and treatment skills for dementia and mild cognitive disorders and achieved significant social benefits.