CORE--NATIONAL CELL REPOSITORY

描述（由申请人提供）： 印第安纳州阿尔茨海默病中心国家细胞库成立 收集和保存大量的信息和生物标本 遗传信息丰富，表型特征良好的家庭， 多个个体患有阿尔茨海默病（AD）。这些血统 然后提供给世界各地的研究人员，并导致我们的 扩大了对AD遗传学的了解。在过去几年中， 关于家族性痴呆的研究范围已经扩大到不包括 不仅包括家族性AD，还包括其他病因引起的家族性痴呆。而 这些疾病的分子机制已经被 阐明，这些神经退行性疾病的发病机制仍然是 不清楚已经发现这些疾病之间有一些有趣的相似之处， 据推测，这些疾病之间的重叠代表了 致病机制 为了应对家族性痴呆症研究范围的扩大，国家 Cell Repository建议在未来五年内将其重点扩大到 包括确定、表征和分布的谱系， 所有类型的家族性痴呆国家细胞库将继续 优先尸检确认疾病开工以来 库，神经病理学诊断的标准已经发展， 关键是仓库里的某些大脑样本 检查以确认和进一步描述神经病理学诊断。 为了增加国家细胞库中所有家族的有用性， 痴呆相关致病基因（APP，PSI，PS2，Tau， PRNP）将在有临床发现的早发家庭中进行 与已知的遗传缺陷一致此外，APOE基因分型将 在所有国家细胞库样本中进行，以增加 这些样本给研究人员。所有分子和神经病理学结果 检测将通过细胞系提供给AD研究者， DNA目录 国家细胞库将继续与AD研究人员合作， 为遗传学研究提供了最有用和最丰富的数据。这一重点 高质量的血统鉴定，使该库被用于 近50名研究人员，并导致40出版物。

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.