Identification and Characterization of Hereditary Diseases in Animals

The NIH-supported National Referral Center - Animal Models of Human Genetic Disease forms the core of the hereditary disease studies by the Section and is the only one in the nation. Through the genetics/pediatrics clinics and referrals from other institutions, over 50 hereditary diseases have been identified and characterized in dogs and cats. These clinical to molecular genetic studies contributed to the better understanding of the pathophysiology of these diseases as well as the accurate diagnosis. Based upon this research the Josephine Deubler Genetic Disease Testing Laboratory utilizes a variety of DNA, biochemical, and hematological tests to identify affected and carrier animals of known recessively inherited diseases in dogs and cats. Other species studied include primates, emus, mice, and food animals. Many of these studies are accomplished through collaborations with other investigators within the School's other departments at the University of Pennsylvania as well as other institutions.