REFERRAL CENTER - ANIMAL MODELS OF HUMAN GENETIC DISEASE

治疗和纠正遗传疾病的可能性越来越大 从基因产物替代到 基因转移已经产生了对动物模型的日益增长的需求， 研究发病机制和治疗方法。 大 人类遗传疾病的自然发生的对应物的水库， 动物没有得到充分利用，部分原因是缺乏 无障碍实验室，提供所需的特殊研究， 并定义动物的遗传疾病 该项目的目标是建立一个国家转介中心， 用于识别、表征、评估和传播 人类遗传疾病的动物模型。 该中心将提供 动物的咨询和实验室研究表明， 人类基因疾病的新对应物。 实验室研究 包括细胞遗传学（常规和条带核型分析）、先天性 代谢错误，异常代谢物的鉴定，以及 以及活组织检查和死后标本的常规病理学研究。 家庭研究和育种实验将用于确定模式， 传承 品种聚集和遗传模式的评估 将借助计算机进行系谱分析。 有前途的模型 将提供给一般的生物医学界， 通过冷冻和储存精液来保存。

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.