FOP Research

“Cause” and “Cure” have always been the guiding principles in FOP research. Our goal has been to discover the exact genetic and molecular cause of FOP and use that knowledge to develop effective treatments and eventually a cure. 

In April 2006, after 15 years of painstaking research, the FOP research team at the University of Pennsylvania School of Medicine, and their international collaborators, pinpointed a single gene mutation -- one letter out of six billion in the human genome -- that causes the runaway bone growth of FOP.  This groundbreaking discovery is being used to unlock the mysteries of FOP, as well as the secrets of many common skeletal conditions, such as osteoporosis, osteoarthritis, post-amputation treatment, and specific complications of hip replacements, spinal cord injuries, head injuries and some heart valve disorders.

The FOP gene discovery gives people with FOP great hope for the future. Now that the cause of FOP is known, research efforts can now focus on a treatment and cure. The discovery of the FOP gene provides a highly specific target for future drug development that holds promise for altering not just the symptoms of the disease but the disease itself.

FOP RESEARCHERS:
Frederick S. Kaplan, M.D., is the Isaac and Rose Nassau Professor of Orthopaedic Molecular Medicine and Chief of the Division of Metabolic Bone Diseases and Molecular Orthopaedics at the University of Pennsylvania School of Medicine. An alumnus of the Johns Hopkins University School of Medicine, Kaplan was Chief Resident in Orthopaedics at the Hospital of the University of Pennsylvania from 1980 to 1981. It was here at Penn’s McKay Laboratory of Orthopaedic Surgery Research that he was introduced to basic scientific investigations of the musculoskeletal system.

Kaplan's subsequent exposure to molecular biology and human genetics as the John A. Hartford Research Fellow from 1989 to 1991 in the laboratory of his mentor and friend Dr. Michael Zasloff, provided the stimulus for his long-held interest in probing the molecular pathophysiology of skeletal disorders. This direction led to his exploration of the mechanisms for bone formation and for identifying the molecular pathology of fibrodysplasia ossificans progressiva (FOP) and identifying another bone disorder of children, progressive osseous heteroplasia (POH). He now leads the only center dedicated to such disorders, the Center for Research in FOP and Related Disorders.
Eileen M. Shore, Ph.D., is an Associate Professor of Orthopaedics and Genetics at the University of Pennsylvania School of Medicine. Since 1991, Shore has dedicated her research to the molecular and genetic causes of human genetic bone disorders, namely fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH). Her particular interest is the genetic regulation of bone and cartilage cell differentiation.