NATIONAL CELL REPOSITORY FOR ALZHEIMER'S DISEASE

国家阿尔茨海默病细胞存储库

• 批准号: 6594200
• 负责人: P. Michael Conneally
• 金额: $ 38.02万
• 依托单位: INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-07-15 至 2006-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6594200
• 关键词: Alzheimer's disease; DNA; Internet; brain; cell bank /registry; cell line; clinical research; computer system design /evaluation; cooperative study; disease /disorder onset; family genetics; genetic susceptibility; human subject; nucleic acid purification; psychological tests; telecommunications

DESCRIPTION (provided by applicant): The National Cell Repository (NCR) was established over a decade ago to collect and maintain information and biological specimens on large numbers of genetically informative, phenotypically well-characterized families with multiple individuals affected with Alzheimer Disease (AD). These families have been successfully used to study the genetics of AD. Over the past decade there has been keen interest to identify the genes contributing to late onset (onset 60 years) AD (LOAD). To date, the important role of apolipoprotein E (APOE) has been delineated in families with LOAD. Clearly, other genes also contribute to late onset AD susceptibility. This supplemental application proposes to provide the resources critical to AD researchers that will allow the elucidation of LOAD susceptibility genes. To this end, the following specific aims are addressed in this supplemental application: 1) Ensure a resource of multiplex LOAD families recruited through Alzheimer Disease Centers (ADCs). a) Establish immortalized cell lines from all genetically informative family members. b) Assist ADCs to maintain contact with families to identify additional affected individuals and plan autopsies. 2) Establish a case control cohort recruited through the AIzheimer Disease Centers (ADCs). a) Isolate DNA from brain sections of LOAD cases previously ascertained through the ADCs. b) Establish immortalized cell lines from living cases and controls ascertained through the ADCs. 3) Obtain additional clinical data from previously recruited LOAD families already participating in the NCR. a) Complete telephone cognitive evaluation of all individuals over the age of 50 years. b) Obtain additional clinical information from informants regarding symptom progression of LOAD subjects. 4) Develop and maintain an internet resource (web page) to review available NCR resources.

描述（由申请人提供）：国家细胞库（NCR）成立于十多年前，旨在收集和保存大量遗传信息、表型特征良好的家族（其中多个人患有阿尔茨海默病（AD））的信息和生物标本。这些家族已被成功地用于研究AD的遗传学。在过去的十年中，人们对鉴定导致迟发性（发病60岁）AD（LOAD）的基因产生了浓厚的兴趣。到目前为止，载脂蛋白E（APOE）的重要作用已在LOAD家族中阐明。显然，其他基因也有助于晚发型AD易感性。本补充申请旨在为AD研究人员提供关键资源，以阐明LOAD易感基因。为此，在本补充申请中提出了以下具体目标： 1)确保通过阿尔茨海默病中心（ADC）招募的多重LOAD家族资源。 a）从所有遗传信息家族成员建立永生化细胞系。 B）协助ADC与家庭保持联系，以确定其他受影响的个人，并计划 尸体解剖 2)建立一个病例对照队列，通过阿尔茨海默病中心（ADC）招募。 a）从先前通过ADC确定的LOAD病例的脑切片中分离DNA。 B）从通过ADC确定的活病例和对照建立永生化细胞系。 3)从先前招募的已参与NCR的LOAD系列中获取额外的临床数据。 a）对所有50岁以上的人进行完整的电话认知评估。 B）从知情者处获得关于LOAD症状进展的其他临床信息 科目 4)开发和维护互联网资源（网页），以审查可用的NCR资源。