REFERRAL CENTER--ANIMAL MODELS OF HUMAN GENETIC DISEASE

转诊中心--人类遗传病动物模型

• 批准号: 3103482
• 负责人: DONALD F PATTERSON
• 金额: $ 27.95万
• 依托单位: UNIVERSITY OF PENNSYLVANIA
• 依托单位国家: 美国
• 财政年份: 1985
• 资助国家: 美国
• 起止时间: 1985-09-20 至 1993-09-19
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3103482
• 关键词: DNA; Mammalia; animal colony; animal population genetics; cats; congenital disorders; cryopreservation; cytogenetics; disease /disorder model; dogs; genetic disorder; genetic models; genetic registry /resource /referral center; inborn metabolism disorder; karyotype; laboratory mouse; model design /development; sperm; tissue /cell culture; veterinary science

The increasing possibilities for treating and correcting genetic disorders in human patients by approaches ranging from gene product replacement to gene transfer have created an increasing need for animal models in which to investigate pathogenetic mechanisms and approaches to therapy. The large reservoir of naturally-occurring counterparts of human genetic disease in animals, particularly domestic animals, has not been adequately utilized, in part because of the lack of accessible laboratories providing the special studies needed to identify and define genetic disorders in animals. The objective of this project is to provide a national referral center for the identification, characterization, evaluation, and dissemination of animal models of human genetic disease. The Center will provide consultation and laboratory studies of animals with signs suggestive of a useful new counterpart of human genetic disease. Laboratory studies include cytogenetics, screening for inborn errors of metabolism, identification of abnormal metabolites, and special and routine pathologic studies of biopsies and postmortem specimens. Family and breeding studies will be used to define modes of inheritance. Promising models will be made available to the general biomedical community in the form of cell cultures, DNA, frozen semen and breeding stock.

治疗和纠正遗传的可能性增加 通过基因的方法，人类患者的疾病 替代基因转移的产品已增加 需要研究致病的动物模型 机制和治疗方法。 大型水库 人类遗传疾病的自然疾病 动物，尤其是家畜，尚未充分 使用，部分原因是缺乏可访问的实验室 提供识别和定义遗传所需的特殊研究 动物的疾病。 该项目的目的是提供全国推荐 识别，表征，评估和 传播人类遗传疾病的动物模型。 这 中心将提供动物的咨询和实验室研究 迹象表明人类有用的新对应物 遗传疾病。 实验室研究包括细胞遗传学， 筛选天生的新陈代谢错误，鉴定 异常代谢产物以及特殊和常规病理研究 活检和验尸标本。 家庭和繁殖 研究将用于定义继承模式。 有希望的 模型将提供给一般的生物医学 以细胞培养，DNA，冷冻精液和 繁殖库存。