FELINE I-CELL DISEASE (MUCOLIPIDOSIS II)

猫科 I 细胞疾病（粘脂血症 II）

• 批准号: 7153994
• 负责人: URS GIGER
• 金额: $ 1.91万
• 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/7153994
• 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）： 现在可以分离出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，而且包括基因治疗在内的遗传疾病治疗有着令人鼓舞的新前景。 如果没有真实的（基因同源的）动物模型，由于伦理和实际原因，不可能在人类患者中进行研究，就无法全面了解和治疗人类患者的遗传疾病。 小鼠基因敲除技术提供了一个有价值的来源，但需要更多的模型，研究需要长寿的动物更大的尺寸，能够监测临床症状和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，并且可以与育种者、兽医和其他对遗传疾病控制感兴趣的人合作进行研究。 研究人员已经表明，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这些资源。 该项目的目标是继续作为一个NRC，以确定，表征，并提供研究，人类遗传疾病的新动物模型。 在实验室、驯化和野生物种（包括非人灵长类动物（NHP））中寻求的模型将涉及与人类患者具有基本相同的分子和临床表型的同源基因位点的缺陷。 模型提供了新的机会，调查疾病的发病机制和治疗方法将受到重视。 该中心将提供临床，病理和分子遗传学研究，以建立与人类疾病的同源性。 经验证的模型将以DNA、细胞、冷冻精液、育种种群的形式提供，在选定的模型中，还将提供正常和突变的cDNA。