Gene Therapy Restores the Sight of an 8-year-old Canadian boy

An eight-year-old Canadian boy, Sam, has just restored his sight through Gene therapy. Sam had gone through a…
New therapy

An eight-year-old Canadian boy, Sam, has just restored his sight through Gene therapy. Sam had gone through a tough time due to his blindness. He couldn’t see the sky neither could he make out shapes in the dark.

Sam narrated that he had bumped into objects in the dark a lot of time and as a result of this, the light has to be on always. Sam’s condition started getting worse as he grew older, which means his blindness was progressive.

However, his story changed when he went through gene therapy. He can now see cloudy skies, shoes, and other things. Sam was diagnosed with a genetic disorder called retinitis pigmentosa.

You lose perception of light, end up in darkness and [it’s] slowly progressive, it’s relentless, your visual field shrinks and shrinks and shrinks and shrinks.

Dr. Elise Heon, of Sick Kids Hospital, explained to CTV News.

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Retinis pigmentosa is a genetic disorder that is caused by mutations in the RPE65 gene. This disease affects 1 in 4,000 Canadians. Retinis pigmentosa is often referred to as a group of disorders since there are various versions of RP based on the pair of genes damaged.

In Canada, the first-ever gene replacement therapy for this type of blindness has been approved. The drug can be administered to both children and adults suffering from this condition, but doctors believe that the earlier it is used, the more sight it will save.

The gene therapy was developed by drug company Spark Therapeutics in the U.S. This therapy works by putting a copy of the healthy gene into inactivated viruses and then these are injected into the retina. The gene enables cells to generate the necessary protein needed to convert light into an electrical signal in the retina.

He is so much more confident. Like getting dressed by himself, matching clothes, doesn’t have to have things enlarged. Being able to [see], even when it’s dark outside, no lights on and it is a cloudy day. He would have to, at school, keep the lights on.

Sam’s mother

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