National Cell Repository for Alzheimers's Disease

描述(由申请人提供)：国家细胞库(NCR)成立于十多年前，旨在收集和维护大量遗传信息丰富、表型特征良好的家庭的信息和生物标本，这些家庭有多个阿尔茨海默病(AD)患者。这些家系已成功地用于AD的遗传学研究。在过去的十年里，人们对识别导致迟发性(发病60岁)AD(负荷)的基因非常感兴趣。到目前为止，载脂蛋白E(ApoE)在载脂蛋白E(ApoE)家族中的重要作用已被阐明。显然，其他基因也与迟发性阿尔茨海默病易感性有关。这一补充应用程序建议提供对AD研究人员至关重要的资源，使其能够阐明负荷易感性基因。为此，本补充申请涉及以下具体目标： 1)确保通过阿尔茨海默病中心(ADC)招募的多重负荷家庭的资源。 A)从所有遗传信息丰富的家庭成员中建立永生细胞系。 B)协助发展援助中心与家庭保持联系，以确定更多受影响的个人并制定计划 验尸报告。 2)建立通过艾兹海默疾病中心招募的病例对照队列。 A)从先前通过ADC确定的负荷病例的脑切片中分离DNA。 B)从通过ADC确定的活体病例和对照中建立永生细胞系。 3)从已经参与NCR的先前招募的LOAD家庭获得额外的临床数据。 A)对所有50岁以上的人进行全面的电话认知评估。 B)从告密者那里获得有关负荷症状进展的更多临床信息 研究对象。 4)开发和维护互联网资源(网页)，以审查可用的NCR资源。

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.