Penn researchers discover gene for FOP, profound skeletal disorder

Pinpointing cause of fibrodysplasia ossificans progressiva (FOP) will accelerate development of treatments for FOP and common bone disorders

Sunday, April 23, 2006
1300 Eastern Time

Investigators at the University of Pennsylvania School of Medicine have located the cause of fibrodysplasia ossificans progressiva (FOP) – a gene that, when damaged, causes the body's skeletal muscles and soft connective tissue to undergo a metamorphosis into bone, progressively locking joints in place and rendering movement impossible. Identifying the gene that causes FOP, one of the rarest and most disabling genetic conditions known to humans and a condition that imprisons its childhood victims in a "second skeleton," has been the focus at Penn's Center for Research in FOP and Related Disorders for the past 15 years. This important discovery is relevant, not only for patients with FOP, but also for those with more common skeletal conditions. See full release below.

The researchers report their findings in the April 23 advanced online edition of Nature Genetics.

WHEN: Media Briefing, under embargo
Friday, April 21, 2006
2:00 p.m. EST

WHERE: University of Pennsylvania School of Medicine
Clinical Research Building (CRB)
Austrian Auditorium
415 Curie Blvd.
Philadelphia, PA 19104
Parking available on Curie Blvd. in garage next to the BRB II/III Building and in front of CRB for television vans. For map of area click on:

HOW: Come to the media briefing in Philadelphia, or call in to listen to the briefing and participate in the Q&A to follow. Call the following numbers five to ten minutes before the briefing at 2:00 p.m.:

United States: (888) 428-4480
International (612) 288-0318

Frederick S. Kaplan, MD, Isaac & Rose Nassau Professor of Orthopaedic Molecular Medicine; Chief, Division of Orthopaedic Molecular Medicine; Director, Center for Research in FOP & Related Disorders, University of Pennsylvania School of Medicine Eileen M. Shore, PhD, Associate Professor of Orthopaedics and Genetics, University of Pennsylvania School of Medicine Jeannie Peeper, FOP patient, President and Founder of the International FOP Association (IFOPA) Stephanie Snow, FOP patient, IFOPA member


Last reviewed: By John M. Grohol, Psy.D. on 30 Apr 2016
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