UPenn, USA

The FOP Research Laboratory, created in 1992, is located at one of the most prestigious medical and research institutions in the country -- the University of Pennsylvania School of Medicine.

Led by Frederick Kaplan, M.D., and Eileen Shore, Ph.D., the FOP Research Laboratory’s dedicated research team includes three principal investigators with many post-doctoral fellows, scientists, students and staff. This core team collaborates with physicians and scientists worldwide to develop treatments and -- someday -- a cure for FOP.

The FOP Research Lab’s seminal work has been highlighted in many prestigious medical publications, including the New England Journal of Medicine, Nature Genetics, The Journal of Bone and Joint Surgery, Clinical Orthopaedics, and The Journal of Bone and Mineral Research.

Much of FOP research takes place at the University of Pennsylvania School of Medicine, where a research laboratory devoted to FOP exists, the search for answers is part of a worldwide effort by many individuals and research teams over the past fifteen years. Scientific members of the International Research Consortium in Australia, Brazil, France, Germany, Korea, the United Kingdom, and throughout the United States have identified multigenerational families who helped us discover the FOP gene, as well as making other important contributions to FOP research.

People with FOP have generously provided blood and tissue samples and helped to raise the funds that are needed to sustain the research effort. In fact, most of FOP research is funded by FOP families, their friends, and their communities. FOP research is a team effort that could not take place without the efforts of all involved.

University of Pennsylvania Research Updates


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Lack of Oxygen Link to FOP Flare-ups

May 2016

Scientists from the Center for Research in FOP and Related Disorders at the University of Pennsylvania have shown that tissue cells starved of oxygen (a state known as hypoxia) amplify the formation of bone in FOP flare-ups in both human cells and mice. One of the causes of hypoxia is inflammation, which we know from previous research is associated with FOP lesions. When a cell is hypoxic, the HIF-1α protein triggers a molecular alarm. In this study, the researchers found that by inhibiting this HIF-1α protein they could quieten the alarm, and that this resulted in a reduction of bone formation in FOP mice. Most importantly, in human FOP bone cells this approach resulted in signalling of bone growth slowing to what you would see in non-hypoxic cells.

So, what does this all mean? This study has identified the HIF-1α protein as a potential target for treating FOP: “The implications for targeted clinical trials and for compassionate clinical use of HIF-1α inhibitors in the treatment of FOP flare-ups are promising, however we need more data on dosing, duration, timing, rebound, resistance and longterm safety,” said Robert Pignolo, Associate Professor of Medicine at the Hospital of the University of Pennsylvania. Findings from the study were published in the Journal of Bone and Mineral Research in May.



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