REFERRAL CENTER--ANIMAL MODELS OF HUMAN GENETIC DISEASE

转诊中心--人类遗传病动物模型

• 批准号: 6942426
• 负责人: MARK E HASKINS
• 金额: $ 63.65万
• 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 2008-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6942426
• 关键词: animal colony; disease /disorder model; genetic disorder; genetic models; genetic registry /resource /referral center

DESCRIPTION (provided by applicant): It is now possible to isolate genes involved in genetic diseases and understand disease mechanisms in terms of the underlying molecular derangements, and there are encouraging new prospects for therapy for genetic diseases, including gene therapy. The full scope of understanding and treating genetic diseases in human patients cannot be realized without authentic (gene-homologous) animal models for studies not possible for ethical and practical reasons in human patients. Mouse gene knockout technology has provided a valuable source, but additional models are needed for studies requiring long-lived animals of larger size to be able to monitor clinical signs and with phenotypes more closely resembling the human diseases. A large reservoir of such models is present in existing animal populations and can be studied with the cooperation of breeders, veterinarians, and others interested in genetic disease control. The investigators 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 NRC 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 nonhuman primates (NHPs), will involve defects in homologous gene loci having essentially the same molecular and clinical phenotypes as in human patients. Models offering new opportunities to investigate disease pathogenesis and approaches to therapy will be emphasized. The Center will provide the clinical, pathological, 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.

描述（由申请人提供）： 现在可以分离与遗传疾病有关的基因，并从潜在的分子紊乱方面了解疾病机制，并且遗传疾病的治疗（包括基因治疗）出现了令人鼓舞的新前景。 如果没有真实的（基因同源的）动物模型，则无法实现对人类患者遗传疾病的全面理解和治疗，因为伦理和实践原因不可能在人类患者中进行研究。 小鼠基因敲除技术提供了宝贵的来源，但需要额外的模型来进行研究，要求较大尺寸的长寿动物能够监测临床症状和更接近人类疾病的表型。 现有动物种群中存在大量此类模型，可以与饲养员、兽医和其他对遗传疾病控制感兴趣的人员合作进行研究。 研究人员表明，可以通过提供一个可访问的中心来确定、验证和保存这些模型来利用该资源。 该项目的目标是继续作为 NRC 来识别、表征人类遗传疾病的新动物模型并使其可供研究。 在实验室、驯养和野生物种（包括非人类灵长类动物（NHP））中寻找的模型将涉及同源基因位点的缺陷，这些基因位点具有与人类患者基本相同的分子和临床表型。 将强调为研究疾病发病机制和治疗方法提供新机会的模型。 该中心将提供与人类疾病建立同源性所需的临床、病理和分子遗传学研究。 经验证的模型将以 DNA、细胞、冷冻精液、种畜以及选定模型中的正常和突变 cDNA 的形式提供。