Word: photoreceptors
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...patients have a faulty gene that gives them a form of Leber's Congenital Amaurocis, a major cause of congenital blindness. Born with limited sight, the patients are expected to become totally blind as they grow older. They have enough photoreceptor cells, but the cells don't work because one of the genes is a dud. Now Ali is firing functional versions of the faulty gene back into the photoreceptor cells, and the one-time procedure could permanently cure the blindness. Johnson's condition - a faulty RPE65 gene - is incredibly rare. But Ali says the procedure, if it works, could...
...trial subjects so far have not had severe immune responses to the new matter in their eyes - always a danger. Scientists are especially hopeful because the procedure worked so well in its animal trials. Scanning the eyes of dogs that underwent the procedure, researchers could see how the photoreceptor cells had changed. More important, the previously blind dogs could see well enough to navigate through a maze...
...vivid demonstration, Dowling attaches GFP protein to the promoter regions of photoreceptor genes, so that a highly fluorescent protein is produced. This serves as a marker for how the rod cells develop and, as Dowling notes, “it enables us to find mutants who have specific defects in the development of photoreceptor cells.” This marker helps to mutant behavior to specific structural defects...
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