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Gene breakthrough can save thousands from blindness

By Catholic Online (NEWS CONSORTIUM)
January 16th, 2014
Catholic Online (www.catholic.org)

A single injection has recently been found to help restore the sight of those who suffer from a hereditary eye disease that can lead to blindness. The new gene therapy can potentially prevent thousands of people from vision loss in old age.

LOS ANGELES, CA (Catholic Online) - The genetic condition, called choroideremia, is caused by a gene defect that destroys light-sensing cells in the retina at the back of the eye. The new therapy tested on two men who were previously told that they would go blind have reportedly "surpassed expectations."

There are new hopes that the therapy could be used to help the hundreds of thousands of people losing their sight through more common, age-related blindness in future.

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According to initial findings, the treatment promotes an improvement for patients on the verge of losing their sight. Researchers added that it also had "huge" implications for the treatment of those with common types of blindness affecting retinal cells.

Among these conditions is age-related macular degeneration for which there is no preventative treatment, although laser surgery and drugs can help.

Saying he was "absolutely delighted" with the results so far, Professor Robert MacLaren, who led the operations at Oxford Eye Hospital, said that "It is still too early to know if the gene therapy treatment will last indefinitely, but we can say that the vision improvements have been maintained for as long as we have been following up the patients, which is two years in one case. In truth, we did not expect to see such dramatic improvements."

Part-funded by the charity Fight for Sight, the process involved six patients with different stages of choroideremia, which is caused by a defect in the gene CHM.

During the trials, only one eye treated in order to compare it with the other.

There was a marked improvement in the vision of two men whose eyesight had been seriously impaired. The other four subjects, whose vision was so far largely unaffected, basically retained the same basic level of sight.

The treatment involves a one-off injection of a harmless virus carrying a properly functioning copy of the CHM gene directly into the retina's light-sensitive cells.

The process cannot replace dead cell. MacLaren, however, believes that it can help heal "sick" cells and protect healthy cells. "If we were able to treat people early, we'd be getting the virus in before their vision is lost," he said.

It must be noted that choroideremia has one defective gene that needs replacing. Macular degeneration, a far more common condition involves a number of genes that have to be identified. Trials involving six new subjects are being carried out.

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