CORE--NATIONAL CELL REPOSITORY

核心--国家细胞库

• 批准号: 6652173
• 负责人: P. Michael Conneally
• 金额: $ 17.85万
• 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: 2002-09-01 至 2003-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6652173
• 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

DESCRIPTION (provided by applicant): The Indiana Alzheimer Disease Center National Cell Repository was established to collect and maintain information and biological specimens on large numbers of genetically informative, phenotypically well-characterized families with multiple individuals affected with Alzheimer s Disease (AD). These pedigrees were then made available to researchers worldwide and have lead to our expanded understanding of the genetics of AD. During the past few years, the scope of research regarding familial dementias has broadened to include not only familial AD but also familial dementia of other etiological causes. While the molecular mechanism underlying several of these disorders has been elucidated, the pathogenesis of these neurodegenerative diseases remains unclear. Some intriguing similarities among the diseases have been found and it has been postulated that these overlaps between diseases represent shared pathogenic mechanisms. In response to the expanded scope of familial dementia research, the National Cell Repository proposes during the next five years to broaden its focus to include the ascertainment, characterization and distribution of pedigrees with all types of familial dementia. The National Cell Repository will continue to prioritize autopsy confirmation of disease. Since the commencement of the Repository, criteria for neuropathological diagnosis have evolved, making it essential that certain brain samples in the Repository receive further examination to confirm and further delineate the neuropathological diagnoses. To increase the usefulness of all families in the National Cell Repository, molecular testing of dementia-related causative genes (APP, PSI, PS2, Tau, PRNP) will be performed in early onset families with clinical findings consistent with the known genetic defects. In addition, APOE genotyping will be performed in all National Cell Repository samples to increase the value of these samples to researchers. Results of all molecular and neuropathological testing will be made available to AD investigators through the Cell Line and DNA Catalog. The National Cell Repository will continue to work with AD researchers to provide the most useful and informative data for genetic studies. This focus on high quality pedigree characterization has led the Repository to be used by nearly 50 researchers and has resulted in 40 publications.

描述（由申请人提供）： 建立了印第安纳州阿尔茨海默氏病中心国家细胞存储库 收集和维护大量信息和生物标本 具有遗传信息丰富的表型特征良好的家庭 多个患有阿尔茨海默氏病（AD）的人。这些血统 然后向全球研究人员提供，并导致我们 扩大对AD遗传学的理解。在过去的几年中， 有关家族性痴呆症的研究范围已扩大到包括 只有家族性广告，也是其他病因原因的家族痴呆症。尽管 这些疾病中的几种分子机制一直是 阐明了这些神经退行性疾病的发病机理仍然存在 不清楚。发现了这些疾病中的一些有趣的相似之处 有人认为，疾病之间的这些重叠表示共享 致病机制。 为了响应家庭痴呆症研究的扩大范围 细胞存储库在接下来的五年中建议将其重点扩大到 包括确定，分子的特征和分布 所有类型的家族性痴呆症。国家细胞存储库将继续 优先确认疾病。自从开始 存储库，神经病理学诊断的标准已经发展，使之成为现实 重要的是，存储库中的某些大脑样本进一步接收 检查并进一步描述神经病理学诊断。 为了增加国家细胞存储库中所有家庭的有用性， 痴呆相关因果基因的分子测试（APP，PSI，PS2，TAU， PRNP）将在具有临床发现的早期发作家族中进行 与已知的遗传缺陷一致。此外，APOE基因分型将 在所有国家细胞存储库样本中进行 这些样本给研究人员。所有分子和神经病理学的结果 测试将通过细胞系向广告调查人员提供，并且 DNA目录。 国家细胞存储库将继续与广告研究人员合作 为遗传研究提供最有用和信息的数据。这个重点 关于高质量的血统表征，使存储库使用 近50名研究人员，已有40个出版物。