‘Elephant Man’ gene found
An international team reports discovering the mutation responsible for Proteus syndrome. This very rare and troubling developmental disorder causes severe, uncontrollable outgrowths of soft and bony tissue, leaving those affected painfully deformed. Roughly 500 people in the developed world are know to have it. Joseph Merrick (pictured) who lived from 1862 to 1890 and toured Europe as ‘The Elephant Man,’ is probably the disease’s most famous victim. The finding ends a long search for the cause of the disease and may provide some useful insight for treatment given that the gene involved, AKT1, is a well-researched target in cancer.
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