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 从基因角度看人类患者的疾病 产品更新换代到基因转移创造了越来越多的 需要动物模型来研究病原学 治疗的机制和方法。中国的大型水库 自然发生的人类遗传病 动物，特别是家养动物，一直没有得到足够的保护 利用，部分原因是缺乏可进入的实验室 提供鉴定和定义基因所需的专门研究 动物的疾病。 这个项目的目标是提供一个全国性的推荐 鉴定、表征、评估和评估中心 人类遗传病动物模型的传播。这个 中心将提供动物咨询和实验室研究 有迹象表明人类有一个有用的新对应物 遗传病。实验室研究包括细胞遗传学， 新陈代谢先天缺陷的筛查，鉴定 异常代谢产物以及特殊和常规的病理研究 活组织检查和尸检样本。家庭与养育 研究将被用来定义遗传模式。前景看好 模型将提供给普通生物医学 以细胞培养、DNA、冷冻精液和 种畜。

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.