Ellen Pfendner, PhD
Director, Epidermolysis Bullosa Diagnostics Program
Ellen Pfendner received her PhD 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 34 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 25 years Dr. Pfendner has specialized in the diagnostics for Epidermolysis Bullosa, developed clinical tests for all genes involved in Epidermolysis Bullosa, analyzed over 1500 diagnostic cases and performed hundreds of prenatal diagnoses. Dr Pfendner is recognized as an international expert in the field of diagnostics for Epidermolysis Bullosa.