CRYOPRESERVATION OF SEMEN AND SOMATIC CELLS

精液和体细胞的冷冻保存

• 批准号: 7153983
• 负责人: MARK E HASKINS
• 金额: $ 0.64万
• 依托单位: UNIVERSITY OF PENNSYLVANIA
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-08-01 至 2006-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7153983
• 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）： 现在可以将涉及遗传疾病的基因隔离，并了解潜在的分子危险，并且在包括基因治疗在内的遗传疾病治疗方面有令人鼓舞的新前景。 如果没有真实的（基因同源）动物模型，就无法实现人类患者的遗传疾病的全部范围，以进行研究，这是由于人类患者的伦理和实际原因而无法实现的。 小鼠基因基因敲除技术提供了一个有价值的来源，但是需要其他模型才能进行较大尺寸的长寿命动物，以便能够监测临床体征和表型更类似于人类疾病。 现有动物种群中存在着大量这种模型的水库，可以与育种者，兽医和对遗传疾病控制感兴趣的其他人的合作进行研究。 研究人员表明，可以通过提供可访问的中心来确定，验证和保留这些模型来利用此资源。 该项目的目的是继续充当NRC，以识别，表征和提供研究人类遗传疾病的新动物模型。 在包括非人类灵长类动物（NHP）在内的实验室，驯化和野生物种中寻求的模型将涉及具有与人类患者基本相同的分子和临床表型的同源基因基因座的缺陷。 将强调提供新机会来研究疾病发病机理和治疗方法的模型。 该中心将提供与人类疾病建立同源性所需的临床，病理和分子遗传研究。 经过验证的模型将以DNA，细胞，冷冻精液，繁殖库存以及在某些模型（正常和突变cDNA）中的形式提供。