Fibrodyplasia Ossificans Progressiva (FOP) is a rare heritable disorder of connective tissue characterized by malformation of the big toes and by heterotopic bone formation starting from the neck and progressing down through the body and limbs. This causes severe disability by early adulthood by locking the joints. It is not possible to operate as any muscle trauma causes more bone to form.

Research is being conducted into the pathogenesis of FOP but, because of the debilitating nature of the disorder, there are few FOP families from which to obtain tissue or blood samples to carry out the requisite DNA studies to get an accurate location for the rogue gene.  Until the gene is identified no real cure can be developed although some drugs have been identified which help to calm the attacks.

Roemex is committed to helping research on FOP to discover the pathways as well as the gene so that a cure can be found. Studies have been carried out at the University of Pennsylvania for many years, and Dr. Kaplan, who heads up the research, visits Aberdeen annually. Roemex has assisted this work at Philadelphia for several years by establishing a Roemex Fellowship, which provides funds for a post-doctorate researcher. In 2001 the Grampian Fellowship for FOP was formed and this provides funds through fund-raising at the annual Roemex Burns Supper for another research worker.

An FOP research project was started in January 2003 at Oxford University funded by the Oxford University FOP Research Fund, which is a ring-fenced part of the University of Oxford Charity. Roemex has assisted this project by guaranteeing the availability of funds for a 3-year period, without which it would not have been possible to initiate the research project. The intention is to extend this term for another 3 years in the absence of the formation of a separate UK FOP Charity.

FOP Update 25th April 2006

Dr Kaplan and his team at the University of Pennsylvania believe they have made a crucial breakthrough in their research by locating the faulty gene that causes FOP.  The disease is caused by a single mutation in a gene called ACVR1 which results in tendons, ligaments and skeletal muscle being painfully transformed into bone.  This discovery will allow Dr. Kaplan and his team to start working on a cure for this rare disease, hopefully developing a drug that will block or bypass the genetic trigger which results in extra bone growth.