REFERRAL CENTER--ANIMAL MODELS OF HUMAN GENETIC DISEASE

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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.