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， 人类患者的疾病的方法，从基因 从产品替代到基因转移， 需要动物模型来研究致病性 治疗的机制和方法。 大型水库 自然发生的人类遗传疾病， 动物，特别是家畜， 部分原因是缺乏无障碍实验室 提供所需的特殊研究，以确定和定义遗传 动物的疾病。 该项目的目标是提供一个全国性的转介， 鉴定、表征、评价和 传播人类遗传疾病的动物模型。 的 中心将提供咨询和动物实验室研究 有迹象表明，一个有用的新的人类 遗传病 实验室研究包括细胞遗传学， 先天性代谢缺陷的筛查， 异常代谢物，特殊和常规病理学研究 活组织检查和死后标本。 家庭和教养 研究将用于确定遗传模式。 有前途 模型将提供给一般生物医学 以细胞培养物、DNA、冷冻精液和 种猪。

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.