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Elephant Man Disease Caused by Single Gene That May be Treated, National Human Genome Research Institute Study



7/28/2011 7:29:25 AM

A team of researchers has identified the genetic mutation that causes Proteus syndrome, a rare disorder in which tissue and bone grows massively out of proportion. The discovery, which has implications for potential drug therapies and even cancer, appears in the July 27, 2011, early online edition of the New England Journal of Medicine. The team was led by researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. Proteus syndrome gained wide public attention in 1980, through the movie "The Elephant Man,'' about a 19th century Londoner whom experts believe may have suffered from the disease.

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