CANINE COAGULOPATHIES

犬凝血病

• 批准号: 7153999
• 负责人: URS GIGER
• 金额: $ 0.06万
• 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/7153999
• 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)： 现在有可能分离与遗传病有关的基因，并从潜在的分子错乱方面了解疾病的机制，包括基因治疗在内的遗传病治疗有令人鼓舞的新前景。如果没有真正的(基因同源的)动物模型进行研究，就不可能全面了解和治疗人类患者的遗传病，因为人类患者的伦理和实际原因是不可能的。小鼠基因敲除技术提供了一个宝贵的来源，但需要更多的模型来进行研究，要求体型更大的长寿动物能够监测临床症状，表型更接近人类疾病。在现有的动物种群中存在大量这样的模型，可以在饲养员、兽医和其他对遗传疾病控制感兴趣的人的合作下进行研究。调查人员已经证明，通过提供一个可访问的中心来确定、验证和保存这些模型，可以利用这一资源。该项目的目标是继续作为NRC来识别、表征和提供人类遗传病的新动物模型用于研究。在实验室、家养和野生物种(包括非人灵长类动物)中寻找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座缺陷。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。该中心将提供所需的临床、病理和分子遗传学研究，以确定与人类疾病的同源性。经过验证的模型将以DNA、细胞、冷冻精液、繁育种群的形式提供，在选定的模型中还将提供正常和突变的cDNA。