Monday, September 14, 2015

Stone Man Syndrome

Fibrodysplasia ossificans progressiva (FOP) is a very rare disease that slowly turns muscle, ligaments, and tendons into bone. This disease has been nicknamed "stone man syndrome". According to a report found on the journal Science Translational Medicine, this disease is caused by a series of mutations in the ACVR1 gene, which controls muscle and bone development. The mutations in this gene are thought to over work it when it is exposed to the signaling protein called activin A. Early stages of stone man syndrome typically begin in the neck and gradually spreads down to the torso and limbs. Excess bone brought on by this disease may cause difficulty or inability to move in affected areas, such as the jaw or rib cage.

In recent developments, researchers at Regeneron Pharmaceuticals, Inc. have created an antibody that blocks the signaling protein activin A from the ACVR1 gene. This antibody has been tested on lab mice with the disease, and it has been found to successfully stop excess bone growth.

This article intrigued me because I have never heard of such a disease as this. Although it is a very rare disorder, I think that it is a wonderful thing that mankind has found a way to effectively treat a disease that does something as horrific as this, as you can see in the photo provided. 

4 comments:

  1. I have never seen anything like this before in my life! Thanks for such a cool article, this really sparked my interest because I am a Physical Therapy major so it really made me think about the range of motions in a condition like this.

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  2. I heard of this disease once before but I never knew much about it. It's hard to believe that there are people who live with this disease every day. I'm going to guess that there's no way to treat the disease but only to prevent it.

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  3. I have also never heard of anything like this. Its crazy to think that people had to suffer with a disease like this. It is always wonderful to see a cure for such horrific illnesses. This was a very interesting topic and a great article as well.

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  4. Wow, this is amazing! I've head of the disease before because one of the most well known cases was of a boy that developed the disease when he was 10 years old, and when he'd died around 40 years old, his body was completely solidified so he could only move his lips. Science is advancing so much! Although it is a rare disease, it's still incredibly devastating, so the fact that we were able to isolate the gene causing it is so exciting for the future of medicine. The cancer cure is next!!!!!

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