PennGen: Characterization of Metabolic and Molecular Genetic Defects in Dogs and Cats
Caitlin A. Fitzgerald; Patricia O'Donnell; Karthik Raj; Michael Raducha; Ping Wang; Kate Berger; Margaret L. Casal; Peter J. Felsburg; Paula S. Henthorn; Mark E. Haskins; Urs Giger
Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA
The Section of Medical Genetics at University of Pennsylvania School of Veterinary Medicine has actively pursued the diagnosis and management of hereditary diseases and genetic predispositions to disease in companion animals for the past 4 decades.
The specialty Pediatrics and Genetics Clinic and diagnostic and research laboratories have been characterizing many inherited traits in dogs and cats, from the clinical features to the metabolic and molecular genetic defects.
The Metabolic Genetics Screening Laboratory supported by an NIH grant conducts routine analyses of amino acids, organic acids, and carbohydrates in urine samples for various inborn errors of metabolism such as many storage diseases, lactic and methylmalonic aciduria, cystinuria, and Fanconi syndrome. Particularly, the NIH grant also focuses on mucopolysaccharidosis (MPS), mannosidosis, and gangliosidosis, which are diagnosed by urinary spot tests and enzyme assays. Moreover, affected animals serve as excellent disease models of human disease.
Another area involves hereditary blood disorders such anemia due to red cell defects (PK, PFK, osmotic fragility), bleeding disorders caused by coagulation factor (Factor VII and XI), and platelet disorders along with predisposition to infection resulting from white blood cell problems (X-SCID, LAD, avian tuberculosis). This laboratory also investigates canine and feline blood types and is offering typing service in case of incompatibility issues.
PennGen and the Josephine Deubler Laboratory, named in honor of Dr. Deubler (veterinarian, dog breeder, and dog show judge), were specifically established to provide genetic tests for veterinarians, breeders, and pet owners to assist in their effort to provide precise diagnosis and help with breeding of animals free of hereditary diseases known to particular breeds. The laboratory offers DNA tests for genetic diseases found in dogs and cats mostly based upon the research performed by the investigators at Penn to identify affected, carrier (asymptomatic), or normal (clear) genotypes in pets. Tests offered by PennGen as well as other DNA testing laboratories worldwide can be found at http://research.vet.upenn.edu/WSAVALabSearch (VIN editor: Link could not be accessed as of 9-12-13), which is a searchable database by disease, breed, and laboratory.
PennGen provides various diagnostic genetic services and consultations for primary care veterinarians, veterinary specialists, breeders, and pet owners in order to produce the healthiest dogs in each breed and to gain new knowledge and insight to these genetic diseases.
Supported in part by the National Institutes of Health (OD 010939), Canine Health, Winn Feline, and other foundations.