August 27, 2005.
The discovery that a gene called Rpe65 is a key enzyme in the so-called visual cycle, the chemistry needed for eyesight, may aid scientists' efforts to cure one form of blindness, according to research published in the journal Cell.
Researchers led by Gabriel Travis, a University of California at Los Angeles biochemist, said scientists previously were unable to explain the chemistry behind the known link between Rpe65 and the blindness called Leber congenital amaurosis.
The new finding may reinforce the belief of some scientists that so-called gene therapy may be able to cure the Leber form of blindness.
"This suggests that replacement of Rpe65 by gene therapy should correct the blindness in these children, as was observed in mice and dogs with Rpe65 mutations," said Travis.
Trials of the cure in humans may start before the end of next year, under the supervision of Samuel Jacobson, a University of Pennsylvania ophthalmologist, said Gregory Acland, a Cornell researcher who was the lead author of the 2001 report, in a telephone interview. Jacobson wasn't available for comment.
An estimated 10,000 to 15,000 people in the U.S. have Leber congenital amaurosis, said Allie Laban-Baker, a spokeswoman for the Foundation Fighting Blindness in Owings Mills, Md.
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