Vincent Leeover 1 year ago

Fibrodysplasia Ossificans Progressiva (FOP)

Fibrodysplasia Ossificans Progressiva (FOP) is a progressive disease caused by mutation of the ACVR1 gene, which is in charge of producing bone morphogenetic protein (BMP) type I receptors. This mutation causes skeletal muscle and connective tissues to gradually ossify (become bone), and is usually noticeable in early childhood with the neck and shoulders being the first sites of extra-skeletal ossification. In addition, any trauma to the body (such as a fall or surgically invasive procedure) will cause muscle and connective tissue to ossify, restricting the patient's movement. Unfortunately, there is no curative treatment for FOP; however, recent breakthroughs regarding genetic therapy (CRISPR) could soon bring a cure to this condition.⁠