Genetic Pathway Specific to Sarcoma Identified

    Sarcomas are rare cancers that may occur within bone, muscle, and even cartilage. It makes up about 20% of cancer diagnoses among those under 20 years old. Sarcoma causing genes have been identified using a genomic map constructed by the researchers at Garvan Institute of Medical Research and UNSW, Sydney. In this study, to identify mesenchymal cancer pathways among cases and controls, they performed whole-genome germline sequencing and found a gene said to be clinically important, as well as a sarcoma specific pathway that was unknown. According to the head of the Genomic Cancer Medicine Laboratory, David Thomas, "These findings fill important gaps in the missing heritability of cancer." Research in sarcoma, specifically on heritable pathways, could better understand the development in this rare mesenchymal cancer and support families with a history of sarcoma through genetic testing for the disease.

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.