Narrative on FOP

Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder in which normal bone forms in abnormal locations such as muscles, tendons and ligaments. This is perfectly normal bone; it is just growing in the wrong place at the wrong time. Bridges of extra bone form across the joints and can lead to stiffness, locking, and permanent immobility. Any attempt to surgically remove this extra bone results in even more bone formation.

People who have FOP experience different rates of new bone formation; in some the progress is rapid, while in others it is more gradual. In each case, the exact rate and time of progression is unpredictable.

The body of a person with FOP does not make bone all of the time, a person may go for months or even years without progression of the disease. Nevertheless, there is always a chance that extra bone can form, either without warning, or as a result of trauma, such as a bump or fall, intramuscular injections, or surgery.

FOP affects only one in 2 million people worldwide.

Currently there is no known cure for FOP. However, there is tremendous hope for a cure for this disease. After 300 years, the gap between ignorance and knowledge is beginning to narrow in the study of FOP. This is due to the FOP Collaborative Research Project, led by Dr. Frederick Kaplan at the University of Pennsylvania Medical Center in Philadelphia . Dr. Kaplan is assisted by an international group of dedicated physicians, scientists and medical students who work together everyday on all aspects of the FOP project. Currently there are several drugs being tested for the treatment of FOP and great progress has been made toward finding a treatment and cure for the condition.

Like other genetic conditions, FOP research involves finding and fixing a defective genetic switch. At the same time, however, FOP is also unique. There is no other condition that turns one type of tissue into another the way FOP turns muscle into bone. Despite this, the research team has made significant inroads in mapping the elusive FOP gene, and this brings great hope to the FOP community.

Solutions to FOP will be relevant to every condition that affects the formation of bone and every condition that affects the formation of the skeleton. The genetic and molecular roadmaps that must be drawn to understand the complex workings of FOP will be used to design the most effective treatments for FOP. But, those same roadmaps will also be used by other scientists and physicians to design effective treatments for more common conditions as well. Researching this rare disorder may one day also benefit people who suffer from more common bone-related conditions, such as osteoporosis, arthritis, post-amputation treatment, certain spinal cord injuries and some heart valve disorders.

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