Facilities

Josephine Deubler Genetic Disease Testing Laboratory

The University of Pennsylvania School of Veterinary Medicine has established the Josephine Deubler Genetic Disease Testing Laboratory. The laboratory is part of a service that encompasses a genetic testing and counseling program in the School's Section of Medical Genetics. It is named after the School's first female graduate, Dr. Josephine Deubler, V'38, who served on the faculty until 1987 and is still active in school affairs.

Hereditary diseases of companion animals are an important problem for breeders and owners. More than 350 inherited disorders have been identified in the dog and over 150 in the cat. The Section of Medical Genetics at the School has been in the forefront of reporting hereditary diseases in companion animals for more than 20 years. Many diseases were first discovered by Penn researchers who often also characterized the disease course, determined the mode of inheritance and developed tests to identify affected animals. Since most of the diseases are recessively inherited, tests to identify carriers who are clinically asymptomatic but can pass on the abnormal (mutant) gene have been developed. With recent advances in molecular genetic technology several DNA-based tests which are more accurate have been introduced.

The genetic testing laboratory is enhanced by weekly Pediatrics and Genetics Clinics at The Matthew J. Ryan Veterinary Hospital of the University of Pennsylvania to provide counseling and advice on the management of affected animals and on breeding companion animals free of genetic diseases and will aid in the identification of new hereditary diseases.

The Canine Genetic Disease Information System (CGDIS) has been developed by the University of Pennsylvania, based on the published literature, to provide up-to-date information to veterinarians, breeders, and researchers. The database is organized into sections with summaries suitable for the layperson as well as detailed information for those with veterinary medical or genetic expertise.

The Genetic Testing and Counseling Program has become a reliable resource at an affordable rate. It is a non-profit operation under the auspices of the Matthew J. Ryan Veterinary Hospital of the University of Pennsylvania, supported by donations and modest service fees.