REFERRAL CENTER--ANIMAL MODELS OF HUMAN GENETIC DISEASE

转诊中心--人类遗传病动物模型

• 批准号: 6394584
• 负责人: MARK E HASKINS
• 金额: $ 54.15万
• 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/6394584
• 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.

现在可以分离与遗传病有关的基因 从潜在的分子角度了解疾病机制 精神错乱。治疗有令人鼓舞的新前景，包括 基因疗法。理解和治疗遗传的全面前景 如果没有真实的（基因- 同源）动物模型用于在人类患者中不可能进行的研究。 小鼠基因敲除技术提供了宝贵的来源，但 需要更大尺寸动物的研究需要额外的模型 并且表型更接近人类疾病。一个大 这种模型的储存库存在于现有的动物种群中，并且可以 与饲养员、兽医和其他人的合作进行研究 对遗传病控制感兴趣。我们已经证明这个资源 可以通过提供一个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 作为国家转介中心来识别、描述和制定 可用于研究人类遗传疾病的新动物模型。这 在实验室、驯化和野生物种中寻找模型，包括 灵长类动物会涉及同源基因位点的缺陷，并且基本上具有 与人类患者相同的分子和临床表型。型号 为研究疾病机制和 将强调治疗方法。中心将提供 需要进行临床、病理学和分子遗传学研究来确定 与人类疾病的同源性。将提供经过验证的模型 以 DNA、细胞、冷冻精液、种畜和选定的形式存在 模型、正常和突变 cDNA。