REFERRAL CENTER--ANIMAL MODELS OF HUMAN GENETIC DISEASE

转诊中心--人类遗传病动物模型

• 批准号: 6530018
• 负责人: MARK E HASKINS
• 金额: $ 55.77万
• 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 2003-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6530018
• 关键词: DNA; Mammalia; Primates; animal breeding; animal colony; animal genetic material tag; animal population genetics; cats; cell bank /registry; cryopreservation; cytogenetics; disease /disorder model; dogs; fluorescent in situ hybridization; genetic disorder; genetic disorder diagnosis; genetic models; genetic registry /resource /referral center; inborn metabolism disorder; laboratory mouse; linkage mapping; model design /development; molecular cloning; semen; tissue resource /registry

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.

现在可以分离涉及遗传疾病的基因和 从基础分子来了解疾病机制 扰乱。有令人鼓舞的新治疗前景 基因疗法。理解和治疗遗传的完整前景 没有真实的人（基因 - 人类患者无法进行研究的同源动物模型。 鼠标基因敲除技术提供了宝贵的来源，但 需要其他模型才能进行大小较大的动物 并且表型更像人类疾病。一个大 这种模型的水库存在于现有动物种群中，可以 与育种者，兽医和其他人的合作一起研究 对控制遗传疾病感兴趣。我们已经证明了这个资源 可以通过提供可访问中心来确定，验证， 并保留这些模型。该项目的目的是继续 充当国家推荐中心，以识别，表征和做出 可用于研究，新的人类遗传疾病模型。这 在实验室，驯养和野生物种中寻求的模型，包括 灵长类动物将涉及同源基因基因座的缺陷，并且本质上具有 与人类患者相同的分子和临床表型。型号 提供了调查疾病机制和的新机会 将强调治疗方法。中心将提供 建立临床，病理和分子遗传学研究 与人类混乱的同源性。将提供经过验证的型号 以DNA，细胞，冷冻精液，繁殖库存以及选定的形式 模型，正常和突变cDNA。