Newswise — PHILADELPHIA—The National Organization for Rare Disorders will present Penn Medicine’s Frederick S. Kaplan, MD, with a 2017 Rare Impact Award, which recognizes those working to make a difference in the lives of people with rare diseases. Kaplan is the Isaac & Rose Nassau Professor of Orthopaedic Molecular Medicine and chief of the division of Molecular Orthopaedic Medicine in the Perelman School of Medicine at the University of Pennsylvania. In 1988 he met a child with fibrodysplasia ossificans progressiva, or FOP, an extremely rare disorder in which the body’s skeletal muscles turn into bone, forming an internal “second skeleton.” Signs of FOP appear at birth as a malformation of the big toe. Painful episodes of bone formation begin during early childhood. Since that 1988 encounter, Kaplan has dedicated himself to understanding what causes FOP and working with patients around the world. In 2006, Kaplan, his colleague Eileen M. Shore, PhD, the Cali and Weldon Research Professor in FOP, and a team of international collaborators identified the genetic mutation that causes FOP, which affects only 3,000 people worldwide. That year, Newsweek cited Kaplan “one of the 15 people who make America great,” noting that “the disease was so rare, nobody wanted to deal with it until he came along.” In addition to working with the FOP community, Kaplan and colleagues also discovered progressive osseous heteroplasia (POH), another rare disorder in which bone forms outside the skeleton, within skin and muscle tissue. Soon thereafter, Kaplan and Shore discovered the genetic cause of POH.

Kaplan and Shore direct the world’s only research center dedicated to these two conditions. For his pioneering efforts, Kaplan is widely regarded as the world’s leading expert on genetic disorders of heterotopic ossification (when bone forms outside the skeleton) and skeletal metamorphosis (FOP). In 1997, Kaplan was awarded the first endowed chair in the nation by Penn Medicine for orthopaedic molecular medicine.

In addition to Kaplan, other 2017 Rare Impact Award honorees include patients, researchers, and clinicians, elected officials, patient organizations, and industry innovators. The awards will be given at a benefit event on May 18 in Washington, DC to help fund the National Organization for Rare Disorders’ missions of education, advocacy, research, and patient support. Over 30 million Americans today are living with rare diseases, more than half of whom are children. Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $6.7 billion enterprise.The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 20 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $392 million awarded in the 2016 fiscal year. The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania and Penn Presbyterian Medical Center -- which are recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report -- Chester County Hospital; Lancaster General Health; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2016, Penn Medicine provided $393 million to benefit our community.