Ellen Pfendner, PhD

Director of EBDx program
GeneDx Inc., Gaithersburg, MD

Ellen Pfendner, PhD, received her BS from Simmons College in Boston MA and PhD in Microbiology from the University of Pennsylvania in 1984. After three years of teaching undergraduate and graduate microbiology at the University of Pennsylvania, she joined the staff of the Molecular Diagnosis Unit in the Department of Pathology at the Hospital of the University of Pennsylvania in 1987. From 1989 to 1993 Dr. Pfendner was Director of the Molecular Diagnosis Laboratory at Albert Einstein Medical Center in Philadelphia. In 1995, she joined the Department of Biochemistry at Thomas Jefferson University in the Matrix Molecular Diagnostics Laboratory. In 1996, Dr. Pfendner joined Dr. Jouni Uitto in the Department of Dermatology managing all aspects of the Epidermolysis Bullosa Testing Service and became an Assistant Professor in 2001. In 2000, Dr. Pfendner began collaborating with PXE International on mutation screening in a large international cohort of patients. Dr. Pfendner has experience in genetic testing for a number of inherited diseases including hemophilia, fragile X syndrome, Duchenne muscular dystrophy, cystic fibrosis, sickle cell anemia, osteogenesis imperfecta, stickler´s syndrome, and most recently all forms of epidermolysis bullosa and pseudoxanthoma elasticum. Dr. Pfendner is the author of numerous scientific articles on the genetics of epidermolysis bullosa and pseudoxanthoma elasticum.

Areas of Interest

Genetics of PXE, Clinical Manifestations, Epidemiology of PXE

Publications

Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol. 2009 Jan;18(1):1-11. Free article at Journal Website

Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Mutation Detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet. 2007 Oct;44(10):621-8. Free article in PubMed, Patient Summary