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Department of Clinical Studies - Philadelphia
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Section of Medical Genetics - PennGen
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Canine Genome Studies

Naturally occurring canine genetic diseases have been useful models for the study of the pathophysiology, genetics, and treatment of the homologous diseases in humans. In general, genetic diseases in dogs more faithfully resemble human diseases than do their rodent counter parts. Dogs receive a very high degree of medical scrutiny, nearly comparable to that applied in human medicine, and the same diagnostic procedures used in humans are applied to dogs.

The use of canine homologues of human diseases has largely depended on the establishment and maintenance of breeding colonies, however, these captured diseases represent only a small portion of the available canine disease models that might be utilized to advance our knowledge of mammalian genetic diseases. Purebred dogs, propagated by dog breeders, offer a unique source of pedigrees to elucidate the molecular basis of simple and complex genetic diseases and traits. The unusual and useful features of dog breeds that makes them particularly amenable to genetic analysis is the fact that each breed represents an isolated inbred population. It is now possible to exploit the over 300 existing isolated canine populations worldwide to discover disease-causing genes that are also responsible for simple and complex genetic diseases in man. The basic techniques and expertise for canine genetic mapping already exist in our laboratories, however, we are in the process of expanding and up-dating our capabilities in collaboration with Drs. Avadhani and Fang of the Veterinary School DNA Facility. Our goal (Henthorn, Patterson, Werner) is to develop a microsatellite-typing facility that will advance the capabilities for efficiently and cooperatively applying genome-mapping methods in dog pedigree material for the purposes of identifying genes that contribute to homologous human diseases and for developing genetic tests to eliminate these diseases from dog populations. Our school, with its strong basic research and clinical departments and long-standing interest in genetic disease, is an ideal place for such a facility to be developed.

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