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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.
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As genomic sequencing technologies advanced, 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. The solution required two unique features of the National Institutes of Health (NIH): Dr.
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Researchers hope to test DNA from Merrick's bones, which have been preserved in the museum of the Royal London Hospital. 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. Perhaps the most extreme suffer, and probably the most famous, may have been the 19th century Englishman Joseph Merrick. Biesecker, who has been seeking the cause for more than a decade and half. Patients symptoms range from having a tiny overgrowth on a finger to massive overgrowth of limbs that sometime require amputation, said Dr. 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. "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 severity of the disease - which varies dramatically between sufferers - depends on when during embryonic development the mutation occurs and in which cell. NHGRI's Genome Advance of the Month selection, however, provides the answer - and it's a shocker: Proteus syndrome is caused by a spontaneous change in a single base pair among the three billion base pairs in the human genome that occurs in a single cell of a developing embryo. Moreover, the genetic defect is only found in some of the patient's cells while other tissues are genetically normal and healthy, a condition geneticists call a mosaicism. It's a strange genetic disorder that's never inherited each individual appears to have a new mutation. People suffering the syndrome that bears his name are not so lucky and the cause of their plight has been as mysterious as the disease can be debilitating.
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Proteus, a sea-god from Greek mythology, could change his shape to improve his fortunes. Genome Advance of the Month Proteus: Discovering the tiniest disease-causing flaws - and improving sequencing technologies July 2011 By Jonathan Gitlin, Ph.D.