NATIONAL CELL REPOSITORY FOR ALZHEIMER'S DISEASE

国家阿尔茨海默病细胞存储库

• 批准号: 6798540
• 负责人: P. Michael Conneally
• 金额: $ 12.5万
• 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/6798540
• 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）：国家细胞存储库 (NCR) 于十多年前建立，旨在收集和维护大量遗传信息丰富、表型特征明确的家族的信息和生物标本，其中有多位阿尔茨海默病 (AD) 患者。这些家族已成功用于研究 AD 的遗传学。在过去的十年中，人们对识别导致晚发（60 年发病）AD (LOAD) 的基因产生了浓厚的兴趣。迄今为止，载脂蛋白 E (APOE) 在 LOAD 家族中的重要作用已被阐明。显然，其他基因也导致迟发性 AD 易感性。该补充申请旨在为 AD 研究人员提供至关重要的资源，以阐明 LOAD 易感基因。为此，本补充申请解决了以下具体目标： 1) 确保通过阿尔茨海默病中心 (ADC) 招募多重 LOAD 家族资源。 a) 从所有具有遗传信息的家庭成员中建立永生化细胞系。 b) 协助 ADC 与家人保持联系，以确定其他受影响的个人并制定计划 尸检。 2) 建立通过艾茨海默病中心 (ADC) 招募的病例对照队列。 a) 从先前通过 ADC 确定的 LOAD 病例的脑切片中分离 DNA。 b) 从活体病例和通过 ADC 确定的对照建立永生化细胞系。 3) 从先前招募的已参与 NCR 的 LOAD 家庭获取更多临床数据。 a) 对 50 岁以上的所有个人进行完整的电话认知评估。 b) 从线人处获取有关 LOAD 症状进展的额外临床信息 科目。 4) 开发和维护互联网资源（网页）以审查可用的 NCR 资源。