![]() ![]() "Remarkably, every patient has exactly the same mutation," said Leslie Biesecker, M.D., chief of the NHGRI Genetic Disease Research Branch and senior investigator on the study reported in the July 27, 2011, issue of The New England Journal of Medicine. The mutation has not been seen in normal individuals or in normal tissue from people with Proteus, but it does occur in some types of tumors as a secondary mutation that drives the cell growth that characterizes cancer.Īlthough babies with the mutation appear normal at birth, the syndrome causes parts of an affected individual's body to grow larger and larger, distorting shape and ability to function normally. Patients symptoms range from having a tiny overgrowth on a finger to massive overgrowth of limbs that sometime require amputation, said Dr. Biesecker, who has been seeking the cause for more than a decade and half. Perhaps the most extreme suffer, and probably the most famous, may have been the 19th century Englishman Joseph Merrick. He gained celebrity because his extensive overgrowth deformities caused him to be displayed in human novelty exhibitions as the Elephant Man, later celebrated on stage and in films. Researchers hope to test DNA from Merrick's bones, which have been preserved in the museum of the Royal London Hospital. The solution required two unique features of the National Institutes of Health (NIH): Dr. Biesecker could treat Proteus patients at the NIH Clinical Center, a unique research hospital, where surgical management of tissue overgrowth allowed NIH to create a tissue bank of Proteus samples for analysis. ![]() Biesecker worked with collaborators in the NIH Intramural Sequencing Center to conduct whole genome sequencing, a technique in which all the protein-encoding portions of the genome are analyzed by comparing the Proteus sequence to normal genomes.Īs genomic sequencing technologies advanced, Dr. ![]()
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