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news.A new study identifying a gene most often responsible for a congenital childhood blindness disease has been hailed as a breakthrough in the fight against the condition, which affects one in 30,000 newborns.
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The study from McGill University Health Centre identified the gene most often responsible for leber congenital amaurosis (LCA), the most common form of congenital blindness, which is currently incurable.
“This discovery represents a significant advance in the fight against this debilitating condition,” said Dr Koenekoop, principal co-investigator of the study and director of the McGill Ocular Genetics Centre at the MUHC. “Our discovery has major implications for improved screening. It also opens avenues for treatment of LCA.”
Discovery of the CEP290 gene and a single mutation found in 20% of LCA patients will significantly speed up the genetic testing process for blind children. From a therapeutic viewpoint, this discovery adds another pathway for possible therapeutic manipulation and paves the way for a human gene replacement trial of a related LCA gene (RPE65) in early 2007. If this trial is successful, gene replacement therapy may not be far off.