REFERRAL CENTER--ANIMAL MODELS OF HUMAN GENETIC DISEASE

现在有可能分离出与遗传病有关的基因 从潜在分子的角度理解疾病机制 精神错乱。治疗方面有令人鼓舞的新前景，包括 基因疗法。理解和治疗遗传病的全面前景 人类患者的疾病没有真正的(基因-基因)是不可能实现的 同源)用于研究的动物模型在人类患者中是不可能的。 老鼠基因敲除技术提供了一个有价值的来源，但 对于需要更大体型的动物的研究，需要额外的模型 表型更接近于人类疾病。大号 这种模型的储存库存在于现有的动物种群中，并且可以 在饲养员、兽医和其他人的合作下进行研究 对遗传病控制感兴趣。我们已经证明了这一资源 可以通过提供可访问的中心来确定、验证 并保存这些模型。该项目的目标是继续 作为国家转介中心，以识别、表征和制定 可供研究的人类遗传病新动物模型。这个 在实验室、驯养和野生物种中寻找的模型包括 灵长类动物会涉及同源基因座的缺陷，基本上 与人类患者相同的分子和临床表型。模型 为研究疾病机制和提供新的机会 将强调治疗的方法。该中心将提供 需要进行临床、病理和分子遗传学研究以确定 与人类疾病同源。将提供经过验证的型号 以DNA、细胞、冷冻精液、种畜和精选的形式 模型、正常和突变的cDNA。

It is now possible to isolate genes involved in genetic disease and understand disease mechanisms in terms of the underlying molecular derangements. There are encouraging new prospects for therapy, including gene therapy. The full prospects for understanding and treating genetic diseases in human patients cannot be realized without authentic (gene- homologous) animal models for studies not possible in human patients. Mouse gene knockout technology has provided a valuable source, but additional models are needed for studies requiring animals of larger size and with phenotypes more closely resembling the human diseases. A large reservoir of such models is present in existing animal population and can be studied with the cooperation of breeders, veterinarians, and others interested in genetic disease control. We have shown that this resource can be utilized by providing an accessible center to ascertain, verify, and preserve these models. The objective of this project is to continue to serve as a national Referral Center to identify, characterize, and make available for research, new animal models of human genetic disease. The models sought among laboratory, domesticated, and wild species including primates will involve defects in homologous gene loci and have essentially the same molecular and clinical phenotypes as in human patients. Models offering new opportunities to investigate disease mechanisms and approaches to therapy will be emphasized. The Center will provide clinical, pathologic and molecular genetic studies required to establish homology with the human disorder. Verified models will be made available in the form of DNA, cells, frozen semen, breeding stock and in selected models, normal and mutant cDNAs.