The POH Collaborative Research Project

Introduction | Research Summary | POHA Annual Reports | 5-Year Report

In Search of a Cure for POH

POH research is detective work. The main goal of research was to identify the damaged gene that causes POH and to use that knowledge to establish a cure. Through individual donations and fundraising events, the POHA directly funds POH research. These contributions help support a skilled and dedicated research team at the University of Pennsylvania in Philadelphia. From here, efforts are coordinated with other physicians and scientists throughout the world (POH Collaborative Research Group) in an effort to find a cure for POH. This dedicated research team established under the guidance of Drs. Frederick S. Kaplan, Eileen M. Shore, and Michael A. Zasloff view their efforts not as a job, but as a mission.

Opening Doors for More Common Conditions

The importance and implication of POH research for affected children and their families is unquestionable. However, the importance of POH research for the general medical community is far greater than its rarity might indicate. Research on POH is relevant to all disorders of renegade bone formation. By unraveling the complex pathogenesis of POH, there is great hope that more common disorders of bone formation will become understandable and treatable.

Knowledge gained from this work has the likelihood of elucidating not only the basic molecular mechanisms of POH, but also the basic molecular mechanisms involved in disorders as diverse as congenital limb anomalies, bone cancer, osteoarthritic bone spurs, osteoporosis, and abnormal fracture repair. Recently, our laboratory (propelled by discoveries in FOP and POH has identified bone formation in heart valves as a common finding in patients who have endstage valvular heart disease. Research in POH, therefore has the possibility of elucidating mechanisms of phenotype stability in disorders as fundamental as cancer, aging and valvular heart disease.

During the past several years, great progress has been made in understanding not only the cellular and molecular mechanisms involved in normal bone formation, but also in understanding the complex mysteries of POH. The work undertaken by the collaborative research group is focused on elucidating the underlying molecular cause of POH, and using that knowledge to design medications and treatments that will be genuinely useful to the children and adults who have POH. The most significant breakthrough has been the identification of the damaged gene (GNAS1) responsible for POH.

Research Need

The POH Research Team at the University of Pennsylvania is interested in seeking additional patients and speaking with POH patients. For information please call:

Frederick Kaplan, M.D.
215-349-8726 or

Annual Reports

Click here to view the 2010 Annual Report

Past Annual Reports

2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002

Click here to view the 5-Year Report