Word: dryja
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Retinitis pigmentosa (RP), which affects 100,000 people in the U.S. and approximately 1.5 million worldwide, is caused by mutations in the identified gene, say researchers Eliot L. Berson, Chatlos professor of ophthalmology, and Thaddeus P. Dryja, associate professor of ophthalmology...
Both the retinoblastoma and Duchenne genes were located by comparing DNA strands from healthy and diseased cells. The retinoblastoma team, led by Ophthalmologist Thaddeus Dryja of the Massachusetts Eye and Ear Infirmary, found that there are actually two genes in healthy people that protect against the eye cancer -- probably by ordering production of a protein that prevents cells from multiplying uncontrollably. People born with both of these genes intact can usually sustain damage to one without developing retinoblastoma. But those born with one damaged gene nearly always lose the other and develop the disease...
Discovery of the genes, Dryja predicts, will within a year's time result in accurate prenatal and childhood diagnostic tests for retinoblastoma. The next step, he says, will be to find and synthesize the protein ordered by the genes, the one that prevents wild cell proliferation. This still unknown protein might one day be administered to those lacking the gene and could act to halt the disease. Eventually, advances in gene therapy might even lead to a cure, perhaps through the use of bioengineered viruses that would ferry copies of the healthy gene to the cells of a retinoblastoma victim...
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