Fibrodyplasia Ossficans Progressiva

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Fibrodyplasia Ossificans Progressiva is an extremely rare genetic disease in which the body’s muscles, tendons, ligaments and other connective tissues transform into bone. Throughout the aging process, FOP ultimately causes permanent immobility of the body, people are unable to move or bend effected areas of the body. This crippling disease although rare is life threatening and needs to be cured. Although scientists are now able to identify the cause, more research is needed to fully understand the cause and create an effective treatment.
This medical anomaly is so rare that only recently a cause has been identified. After fifteen years of research University of Pennsylvania’s orthopedic surgeon Frederick Kaplan, M.D., his research team have found the faulty gene responsible for the mutation ("Fibrodysplasia Ossificans Progressiva”) the mutation in the ACVR1 gene causes fibrodysplasia ossificans progressiva. The ACVR1 gene is found in many tissues including skeletal muscle and cartilage. It plays a role in the growth of bones and muscles. It’s also involved in the bone formation from birth to adulthood, specifically the change from cartilage to bone. It is currently understood that the mutation in the gene may cause changes in specific bone receptors. The receptors are what turn bone formation on and off. The mutation in the gene causes the receptor to be turned on constantly; this causes the overgrowth of bone over cartilage. It’s the problem that causes joints to fuse, and bone sheaths to form over other bone (“ACVR1).
The disease is extremely rare, worldwide approximately 1 in 1.6 million people effected. No proven correlation between age, race, gender, ethnic background or geographic location.
One of the first documented ...

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...ibrodysplasia Ossificans Progressiva." Clinical Reviews in Bone and Mineral Metabolism. Vol. 3. Humana, 2005. 252-54. PDF file.

Kaplan, Frederick. “The Phenotype of Fibrodysplasia Ossificans Progressiva” Clinical Reviews in Bone and Mineral Metabolism. Vol. 3. Humana, 2005. 182-86. PDF file.

"FOP Skeleton." FOP Skeleton. 2009. Web. 15 Apr. 2014. .

Kaplan, Frederick. “An Historical Perspective” Clinical Reviews in Bone and Mineral Metabolism. Vol. 3. Humana, 2005. 179-80. PDF file.

Kaplan, Frederick S., et al. "Early diagnosis of fibrodysplasia ossificans progressiva." Pediatrics 121.5 (2008): e1295-e1300.

University of California - San Francisco. "Study Highlights The Ramifications Of Medical Misdiagnosis." ScienceDaily. ScienceDaily, 8 November 2005. .

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