CORE--NATIONAL CELL REPOSITORY

核心--国家细胞库

• 批准号: 6098339
• 负责人: P. Michael Conneally
• 金额: $ 23.7万
• 依托单位: INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-07-01 至 2000-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6098339
• 关键词: Alzheimer's disease; DNA; biomedical facility; brain disorder diagnosis; clinical research; clone cells; diagnosis design /evaluation; disease /disorder prevention /control; disease /disorder proneness /risk; family genetics; human genetic material tag; human subject; information dissemination; information systems; neuropsychological tests; pathologic process; patient /disease registry; tissue resource /registry

While it is likely that the etiology of Alzheimer Disease (AD) is multifactorial in the majority of cases, a significant portion is due to inherited factors which are involved in primary causation or susceptibility. Other risk factors have been proposed, including: sociological factors such as depression and education level; environmental factors such as exposure to heavy metals, head trauma and smoking; biological factors including hyperthyroidism, advanced maternal age at birth, increasing age, Down Syndrome and Parkinson disease. Clearly, the etiology of AD is complex and varied. Thus, it is important that researchers study a common group of well characterized subjects in order to facilitate the comparison of data and minimize variation due to genetic and phenotypic heterogeneity. Therefore, a primary role of the Repository is to increase the knowledge of the relative importance each of these risk factors to the development of AD by making high quality family information and biological specimens available to the research community. Close examination of the genetic heterogeneity of AD can further define the roles of sociological, environmental, physiologic and genetic factors. Significant advances have been made in the last five years in identifying AD causative and susceptibility genes. However, the four identified loci, APP, APOE, S182 and STM2 account for only approximately one half of the genetic etiology in AD, indicating that there are other genes that still need to be identified. Finding these additional loci is important and will require analysis of informative, well-characterized AD families and their biological specimens. The identification of new genes will spur further research into the pathophysiological and gene/environmental interactions in AD. The Indiana Alzheimer Disease Center's National Cell Repository was established to provide the research community with large numbers of well characterized, informative families with multiple individuals affected with Alzheimer Disease. The main goal of the Repository is to facilitate research aimed at expanding our understanding of the etiology, pathogenesis, diagnosis, treatment, prevention, and ultimately, potential cure for this disease. The Repository collects and maintains information and biological specimens on well-characterized families with AD in order to provide a resource for use in research projects and to encourage and foster the development of new avenues of AD research. Specifically, the Repository seeks to identify, recruit, and gather and maintain information from families with histories of AD. This includes pedigree information; medical records concerning the evaluation, diagnosis, and treatment of patients; documentation of the cognitive, behavioral and social consequences of AD; epidemiological and demographic data, and neuropathological diagnosis information. In conjunction with the collection of these data, the Repository seeks to collect, maintain and distribute DNA and permanent cell lines from these families and to make these samples and corresponding information available for the research of a large number of qualified investigators throughout the world., The use of common data and sample sets by various researchers employing different approaches is likely to facilitate comparison of data and the emergence of a common understanding of possible interpretations. The inherent control provided by common sample sets is particularly important in research aimed at understanding a disease with significant genetic and phenotypic heterogeneity. To this end, we have already provided over 2,700 samples to nearly 40 researchers throughout the world.

虽然阿尔茨海默病(AD)的病因很可能是 多因素在大多数情况下，很大一部分是由于 与主要病因有关的遗传因素或 敏感度。还提出了其他风险因素，包括： 抑郁、文化程度等社会学因素； 环境因素，如接触重金属、头部创伤和 吸烟；生物因素，包括甲状腺功能亢进症，晚期母亲 出生年龄、年龄增长、唐氏综合症和帕金森病。 显然，阿尔茨海默病的病因是复杂和多样的。因此，它是重要的 研究人员研究了一组共同的具有良好特征的受试者 以便比较数据，并尽量减少因以下原因引起的差异 遗传和表型的异质性。因此，一个主要的作用是 知识库是增加每个知识的相对重要性 这些风险因素给AD的发展带来了高质量的影响 可供研究使用的家庭信息和生物标本 社区。仔细检查阿尔茨海默病的遗传异质性 进一步界定社会学、环境学、生理学和 遗传因素。在过去的五年中，取得了重大进展 在识别AD致病基因和易感基因方面有多年经验。然而， 已识别的APP、APOE、S182和STM2四个基因座仅占 大约一半的阿尔茨海默病的遗传病因，表明 还有其他基因仍然需要识别。找到这些 额外的基因座很重要，需要分析信息丰富的、 特征明确的AD家系及其生物标本。这个 新基因的识别将刺激对 阿尔茨海默病的病理生理和基因/环境相互作用。 印第安纳州阿尔茨海默病中心的国家细胞库是 建立为研究界提供大量的油井 特征鲜明、信息丰富的家庭，有多个受影响的个人 患有阿尔茨海默病。存储库的主要目标是促进 旨在扩大我们对病因的理解的研究， 发病机制，诊断，治疗，预防，最终，潜在的 治愈这种疾病。存储库收集和维护信息 以及特征明确的阿尔茨海默病家系的生物学标本 为研究项目提供资源，并鼓励和 培育AD研究新途径的发展。具体地说， 存储库旨在识别、招募、收集和维护 来自有AD病史的家庭的信息。这包括血统 信息；有关评估、诊断和治疗的医疗记录 病人的治疗；认知、行为和治疗的记录 阿尔茨海默病的社会后果；流行病学和人口数据； 神经病理诊断信息。与 收集这些数据时，存储库寻求收集、维护和 分发来自这些家族的DNA和永久细胞系，并制作 这些样本和可供研究使用的相应信息 在世界各地有大量合格的调查人员。 不同研究人员对共同数据和样本集的使用 不同的方法可能有助于比较数据和 出现了对可能的解释的共同理解。这个 由公共样本集提供的固有控制尤为重要 在一项旨在了解一种具有显著遗传和 表型异质性。为此，我们已经提供了超过 2700个样本交给了世界各地的近40名研究人员。