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）的病因可能是 在大多数情况下，多因素，很大一部分是由于 参与主要原因的遗传因素，或 易感性 已提出的其他风险因素包括： 社会因素，如抑郁和教育水平; 环境因素，如接触重金属、头部创伤和 吸烟;生物学因素，包括甲状腺功能亢进症、晚期孕产妇 出生年龄、年龄增长、唐氏综合症和帕金森病。 显然，AD的病因学是复杂和多样的。 因此， 研究人员研究了一组常见的具有良好特征的受试者， 为了便于比较数据，并尽量减少由于 遗传和表型异质性。 因此， 知识库是增加知识的相对重要性的每一个 这些危险因素对AD的发展， 可用于研究的家族信息和生物标本 社区 仔细检查AD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 在过去五年中取得了重大进展 多年来，在确定AD致病和易感基因。 但 APP、APOE、S182和STM 2 4个基因座仅占10%， 大约一半的AD遗传病因，表明， 还有其他基因需要鉴定 找到这些 另外的基因座是重要的并且需要分析信息， 特征明确的AD家族及其生物学标本。 的 新基因的发现将刺激对基因组学的进一步研究。 AD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 为研究界提供了大量的 多个个体受影响的特征性、信息丰富的家庭 患有阿尔茨海默病。 知识库的主要目标是促进 旨在扩大我们对病因学的理解的研究， 发病机制，诊断，治疗，预防，并最终，潜在的 治愈这种疾病。 储存库收集和维护信息 和生物标本的良好特征的家庭与AD， 为研究项目提供资源，并鼓励和 促进AD研究新途径的发展。 具体而言是 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 患者的治疗;记录认知、行为和 AD的社会后果;流行病学和人口统计学数据，以及 神经病理诊断信息。 联同 为了收集这些数据，存储库试图收集、维护和 从这些家族中分配DNA和永久细胞系 并使 这些样本和相应的信息可用于研究 世界各地大量合格的调查人员。 的 使用共同的数据和样本集的各种研究人员采用 不同的方法可能有助于数据的比较， 对可能的解释达成共识。 的 由共同样品组提供的固有控制特别重要 在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 2，700个样本提供给全世界近40名研究人员。