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The POH Collaborative
Research Project
In
Search of a Cure
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 Frederick.Kaplan@uphs.upenn.edu.
Research
Summary
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