Dear Shahnaz,
Thanks a lot for sharing this wonderful news regarding gene therapy. I
am having RP. That is also considered as a hereditory disease. I hope,
in future this disease will be curable with the help of gene therapy.

On 8/15/09, shahnaz <[email protected]> wrote:
> timesofindia.indiatimes.com/
> Hereditary blindness curable via gene therapy
> ANI 13 August 2009, 12:47pm IST
> WASHINGTON: Three patients, who received gene therapy for an
> inherited form of blindness,
> continued having vision improvements even after a year, a new study
> has revealed.
> This is the first study to report one-year gene therapy safety and
> efficacy results
> in treating young adults with Leber Congenital Amaurosis (LCA), a
> hereditary condition
> that causes severe vision impairment in infants and children.
> Previously, such improvement
> in vision after was observed within weeks of undergoing gene therapy.
> The three patients - 22, 24 and 25 years old- who received the gene
> therapy, have
> a specific type of LCA caused by a genetic mutation in the RPE65 gene.
> The gene normally makes a critical protein in the visual cycle.
> Without this RPE65
> protein, light-sensitive photoreceptor cells are starved of a
> retina-specific form
> of vitamin A and cannot function, blocking vision. For correcting
> this genetic defect,
> researchers targeted retinal regions with impaired, but intact,
> photoreceptors and
> injected healthy copies of the RPE65 gene under the retina.
> One patient was able to read an illuminated clock for the first time,
> and the new
> ability was not caused by a further increase in light sensitivity,
> which remained
> unchanged from 1 to 12 months after the treatment.
> One year after the single injection, the healthy genes continue to
> make this critical
> protein, increasing the retina's sensitivity to light. "We had
> previously shown that
> RPE65 gene therapy can completely reverse
> one of the two components of this complex disease and provide
> patients with increased
> day and night vision within weeks. We now show that the longevity of
> the visual improvements
> extends to at least one year," said
> Dr. Artur V. Cideciyan, Research Associate Professor of Ophthalmology
> at the University
> of Pennsylvania School of Medicine and lead author of the publications.
> But the visual improvement was caused by a slow change in the
> direction of focus
> to her treated retina. The change appeared 12 months after gene
> therapy, but not
> before.
> The findings are published in Human Gene Therapy, now online, and in
> the New England
> Journal of Medicine (NEJM).
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>
> http://timesofindia.indiatimes.com/articleshow/msid-4889124,prtpage-1.cms
>
>
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