Screening for Hereditary Diseases by the Josephine Deubler Genetic Disease Testing Laboratory (PennGen) at the University of Pennsylvania
Urs Giger; Lisa G Sarvas; Adam Seng; Marisa Van Hoeven; Ping Wang; Cathy E. Clark; N. Matthew Ellinwood; Lisa Berman; Margret L. Casal; Mark E Haskins; Paula S. Henthorn
The Josephine Deubler Genetic Disease Testing Laboratory was established by the University of Pennsylvania School of Veterinary Medicine. Along with the Pediatric and Genetics Clinic, it is part of a service that encompasses genetic screening and counseling for hereditary diseases in companion animals in the School's Section of Medical Genetics. It is named after Dr. Josephine Deubler, the first female graduate and first female PhD recipient of the Veterinary School, an AKC judge and show chairman of Bucks County and the Montgomery County Kennel Club.
Hereditary diseases of companion animals are an important problem for breeders and owners. More than 400 inherited disorders have been identified in the dog and over 170 in the cat. Over the past two decades the Section of Medical Genetics at the University of Pennsylvania discovered and characterized many hereditary disorders in dogs and cats from the clinical features to the molecular genetic defect. Thereby, the mode of inheritance was determined and hematological, biochemical and genetic tests were developed to identify affected and carrier animals. The Josephine Deubler Genetic Disease Testing Laboratory was established to offer these genetic tests to veterinarians, breeders, and pet owners to assist them in their effort to breed animals free of hereditary diseases that were known to occur in their breed.
Since most of the diseases are recessively inherited, tests to identify carriers who are clinically asymptomatic but can pass on the defective (mutant) gene have been developed. With recent advances in molecular genetic technology several DNA-based tests that are most accurate have been introduced by PennGen and are listed below.
Inherited metabolic diseases, which include all biochemical disorders due to genetically determined defects, have gained notable interest during these years. The mission of the Metabolic Screening Laboratory at the University of Pennsylvania is to characterize new disease in companion animals with signs suspicious for genetic disorders. Genetic metabolic screening includes analyses of amino acids, organic acids, and carbohydrates (glycosaminoglycans and oligosaccharides) of urine and serum samples for various inborn errors of metabolism. These tests can determine a metabolic defect in any breed and thus can be applied to define defects in breeds where a certain disease has not been previously identified. Sometimes special tissue or blood cell samples need to be examined. The typical clinical signs of inborn errors of metabolism include neonatal death, failure to thrive, growth retardation, corneal clouding, chronic vomiting or diarrhea, anorexia, neurological signs, hepatosplenomegaly, skeletal abnormalities and facial dysmorphia. Any animal showing these signs are candidates for the sending of urine and serum/plasma (optional) samples to our laboratory for metabolic screening.
The PennGen laboratory is a non-profit operation under the auspices of the University of Pennsylvania School of Veterinary Medicine, supported by donations from individuals and companion animal organizations and modest service fees. Detailed information on testing and sample submission may be found at www.vet.upenn.edu/penngen.