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.

治疗和纠正遗传性疾病的可能性越来越大 在人类患者中通过从基因产物替代到 基因转移创造了对动物模型的日益增长的需求，在这种模型中， 研究致病机制和治疗方法。大的 自然发生的人类遗传病的储存库 动物没有得到充分的利用，部分原因是缺乏 提供鉴定所需的专门研究的无障碍实验室 并定义动物的遗传性疾病。 该项目的目标是建立一个全国性的转诊中心 用于识别、表征、评估和传播 人类遗传病的动物模型。该中心将提供 对有症状的动物进行会诊和实验室研究 人类遗传病的有用新对应物。实验室研究 包括细胞遗传学(常规和显带核型分析)、先天出生筛查 代谢错误，异常代谢物的识别，以及特殊 以及活组织和尸检标本的常规病理研究。 家庭研究和育种实验将被用来确定 继承。品种聚集度和遗传模式的评价 将得到以计算机为基础的系谱分析的协助。前景看好的模式 将提供给普通生物医学界和种质 通过冷冻和储存精液来保存。