PennGen is a genetic testing facility operated through the Section of Medical Genetics at the University of Pennsylvania's School of Veterinary Medicine. It is a collection of not-for-profit laboratories offering testing for a variety of genetic diseases, metabolic screening for inborn errors of metabolism, hematological and other diagnostic services. PennGen also engages in research to uncover the genetic basis of a wide range of diseases in animals.
Hereditary diseases of companion animals are an important problem for clinicians, breeders and owners. More than 900 inherited disorders have been identified in the dog and over 200 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 40 years. Many diseases were first discovered by PennVet researchers who often also characterized the disease course, determined the mode of inheritance, and developed tests to identify affected animals. Since many of the diseases are recessively inherited, tests to identify carriers, which are clinically asymptomatic but can pass on the disease-associated version of the gene (mutant allele) have been developed.
The work of the genetic testing laboratory is enhanced by weekly Pediatrics, Genetics and Reproduction Clinic at The Matthew J. Ryan Veterinary Hospital of the University of Pennsylvania in Philadelphia. These clinics provide counseling and advice on the management of affected animals and on breeding approaches to produce offspring free of genetic diseases, and also aid in the identification of new hereditary diseases.
Josephine Deubler Genetic Disease Testing Laboratory
The School of Veterinary Medicine at the University of Pennsylvania 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. Dr. Deubler passed away in 2009 at the age of 92. Until her death, Dr. Deubler was active in the world of dog showing/breeding and judging, penned a regular veterinary advice column, served on the school faculty until 1987, and was active in school affairs.