What Is Fibrodysplasia Ossificans Progressiva?

Also known as "Stone Man Syndrome" FOP is a connective tissue disease that affects 1 in 2,000,000

The cause of FOP is a mutation in the body's repair system

When the body's tendons, muscles, or joints are damaged, instead of repairing the body normally, the damaged area goes through ossification, which turns the area into bone

The bone formation progresses from the neck area to the feet, but and is detectable around the age of 10

In far progressions, the blood will turn into cartilage, and then has the potential to convert into bone itself

Cause Of Stone Man Syndrome

The cause of FOP is a mutation in the ACVR1 gene, which controls the production of a protein called Bone Morphogenetic Protein

Bone Morphogenetic Proteins can be found in skeletal muscle and soft tissue

Recombinant DNA

Recombinant DNA is artificial DNA created in a lab that takes different genes from various organisms and applies them to one organism

Recombinant DNA is applied through gene therapy where it will be introduced into an organism

Recombinant DNA is also used in GMOs by being inserted into the plasmids of bacteria

Use of Recombinant DNA in FOP

Right now there are many medicines that can help slow the effects of FOP, but none show as much promise as gene therapy

Through the idea of recombinant DNA, professionals will fix the mutation in the ACVR1 gene, which is attributed to FOP, and then reintroduce the fixed gene through gene therapy