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received her Ph.D. from the University of Pennsylvania and after a teaching stint there and a fellowship in the School of Dental Medicine developed an interest in clinical molecular diagnostics. She has 20 years experience running clinical molecular diagnostics laboratories at the University of Pennsylvania, Albert Einstein Medical Center and Thomas Jefferson University in Philadelphia, where she developed and provided testing for many common disorders including: Duchenne Muscular Dystrophy, Hemophilia, Cystic Fibrosis, Sickle Cell Anemia, B and T cell rearrangements, Osteogenesis Imperfecta, Stickler Syndrome and Fragile X Syndrome. For the last ten years Dr. Pfendner has specialized in the diagnostics for Epidermolysis Bullosa, developed clinical tests for all ten genes involved in Epidermolysis Bullosa, analyzed over 700 diagnostic cases and performed hundreds of prenatal diagnoses. | 