REFERRAL CENTER - ANIMAL MODELS OF HUMAN GENETIC DISEASE

转诊中心 - 人类遗传疾病动物模型

• 批准号: 3103476
• 负责人: DONALD F PATTERSON
• 金额: $ 14.47万
• 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 1988-09-19
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3103476
• 关键词: congenital disorders; cytogenetics; disease /disorder model; inborn metabolism disorder; karyotype

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 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 establish 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 (routine and banded karyotyping), screening for inborn errors of metabolism, identification of abnormal metabolites, and special and routine pathologic studies of biopsies and postmortem specimens. Family studies and breeding experiments will be used to define modes of inheritance. Evaluation of breed aggregations and inheritance patterns will be assisted by computer-based pedigree analysis. Promising models will be made available to the general biomedical community, and germ plasm preserved by freezing and storing semen.

治疗和纠正遗传疾病的可能性增加 在人类患者中，通过从基因产物替代到的方法 基因转移已经越来越需要动物模型 研究致病机制和治疗方法。 大 人类遗传疾病的自然疾病的水库 动物尚未得到充分利用，部分原因是 可访问的实验室，提供确定所需的特殊研究 并定义动物的遗传疾病。 该项目的目的是建立一个国家推荐中心 用于识别，表征，评估和传播 人类遗传疾病的动物模型。 中心将提供 对动物的咨询和实验室研究，迹象表明 有用的人类遗传疾病的新对应物。 实验室研究 包括细胞遗传学（常规和带核分型），筛选天生 代谢的错误，异常代谢物的鉴定和特殊 以及活检和验尸标本的常规病理研究。 家庭研究和育种实验将用于定义模式 遗产。 评估品种聚集和遗传模式 将通过基于计算机的谱系分析来协助。 有希望的模型 将提供给普通生物医学界和种植血浆 通过冷冻和存储精液保存。