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Philadelphia (Sept. 15, 2006) – Further investigations of the gene that causes fibrodysplasia ossificans progressiva (FOP), a bone disease that results in extensive uncontrolled bone formation and disability in affected children, highlight the critical importance of this gene during the formation of the human skeleton, according to new data being presented today at the 28th Annual Meeting of the American Society for Bone and Mineral Research (ASBMR).

Although FOP affects only one in two million people worldwide, transforming muscles and other soft tissues into hardened bone, imprisoning children within a “second skeleton,” this rare condition has uncovered an important key to bone and skeletal formation.

The DNA of more than 60 patients with classic features of FOP, including progressive and extensive extra bone formation and altered shape of the great toe, was analyzed, and all patients were found to contain the same mutation of a single DNA letter in the key gene.

In these new investigations, however, Eileen Shore, Ph.D. and colleagues at the University of Pennsylvania, Philadelphia, PA and the University of Glasgow School of Medicine, Glasgow, Scotland discovered that FOP patients with severely shortened fingers and toes, along with extra bone formation, have a different DNA letter change. These results highlight the importance of the initial discovery of the gene, and show that this gene is a key to skeletal development as well as to controlling increased bone formation.

ASBMR President-Elect Steve Goldring, M.D., notes: “These findings could eventually lead to the development of therapies for this disorder and additionally, provide insights into the development of treatments for other skeletal diseases.”

Disclosures: Dr. Shore is on the Medical and Scientific Advisory Boards for the International FOP Association, the POH Association, and the Melorheostosis Association. Dr. Kaplan is on the Board of Directors for the Paget Foundation and is on the Medical Advisory Board for the International FOP Association, the POH Association, and the Melorrheostosis Association. All other authors have reported no conflicts of interest.

To obtain a copy of the scientific abstract, contact Stephanie West (contact information above).  

The ASBMR Annual Meeting is the pre-eminent scientific meeting on bone and mineral metabolism. More than 5,000 delegates are expected to attend the September 15-19 meeting, where nearly 1,800 scientific abstracts are presented. The ASBMR is the premier professional, scientific and medical society established to promote excellence in bone and mineral research and to facilitate the translation of that research into clinical practice. The ASBMR has a membership of nearly 4,000 physicians, basic research scientists, and clinical investigators. To learn more about the Society and the field of bone and mineral research, visit the ASBMR website at www.asbmr.org.

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The ASBMR is the foremost professional, scientific and medical society for the promotion of bone and mineral research and the translation of that research into clinical practice. To learn more, visit the ASBMR website at www.asbmr.org.

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