CORE--NATIONAL CELL REPOSITORY

核心--国家细胞库

• 批准号: 6324514
• 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: 2000
• 资助国家: 美国
• 起止时间: 2000-07-01 至 2001-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6324514
• 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 大多数情况下是多因素造成的，其中很大一部分是由于 涉及主要因果关系的遗传因素或 易感性。 还提出了其他风险因素，包括： 社会学因素，例如抑郁症和教育水平； 环境因素，例如接触重金属、头部外伤等 吸烟；生物学因素包括甲状腺功能亢进症、高龄产妇 出生年龄、年龄增长、唐氏综合症和帕金森病。 显然，AD 的病因复杂多样。 因此，重要的是 研究人员研究一组共同的特征明确的受试者 为了便于数据比较并最大限度地减少由于 遗传和表型异质性。 因此，一个主要角色是 知识库是为了增加各个知识的相对重要性 通过高质量的生产来消除这些风险因素对AD发展的影响 可用于研究的家庭信息和生物标本 社区。 仔细检查 AD 的遗传异质性可以 进一步定义社会学、环境、生理和 遗传因素。 过去五年取得了重大进展 多年致力于识别 AD 致病基因和易感基因。 然而， 四个已确定的基因座，APP、APOE、S182 和 STM2 仅占 大约一半的 AD 遗传病因表明 还有其他基因仍需鉴定。 找到这些 额外的位点很重要，需要对信息进行分析， 特征明确的 AD 家族及其生物标本。 这 新基因的鉴定将促进进一步的研究 AD 的病理生理学和基因/环境相互作用。 印第安纳阿尔茨海默病中心的国家细胞存储库 成立的目的是为研究界提供大量良好的 有多个受影响个体的特征性、信息丰富的家庭 患有阿尔茨海默病。 存储库的主要目标是促进 研究旨在扩大我们对病因学的理解， 发病机制、诊断、治疗、预防以及最终的潜力 治愈这种疾病。 存储库收集和维护信息 以及具有明确特征的 AD 家庭的生物标本 提供用于研究项目的资源并鼓励和 促进AD研究新途径的发展。 具体来说， 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 治疗病人；认知、行为和 AD 的社会后果；流行病学和人口统计数据，以及 神经病理学诊断信息。 结合 收集这些数据时，存储库旨在收集、维护和 分发来自这些家族的 DNA 和永久细胞系，并制作 这些样本和相应的信息可用于研究 世界各地有大量合格的研究人员。 不同研究人员使用通用数据和样本集 不同的方法可能有利于数据和 对可能的解释达成共识。 这 共同样本集提供的固有控制尤为重要 旨在了解具有显着遗传和影响的疾病的研究 表型异质性。 为此，我们已经提供了超过 向全球近 40 名研究人员提供 2,700 个样本。