Gene therapy

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Imagine only being able to see the things in front of you in soft focus, and just in black and white. For people with the genetic eye condition achromatopsia those are just some of the side effects.  But, researchers are testing a new treatment designed to cure the condition by fixing the gene responsible. 

Tara has achromatopsia, a genetic condition that makes her eyes incredibly sensitive to light.  She is also very nearsighted; even while wearing glasses or contacts, she can only see clearly at a very short distance.

Cataldo says, "I cannot drive a car so I rely on public transportation and my bike to get around." 

Dr. Christine Kay, surgical ophthalmologist, University of Florida says, "There are currently no approved or no effective treatments for achromatopsia." 

Dr. Kay is working to change that. She is one of a handful of experts testing a gene therapy. 

Dr. Kay says, "For achromatopsia the cells we have to target are cone cells responsible for decreased vision and color vision. And those are cells at the very bottom layer of the retina." 

Using a tiny cannula, doctors deliver a normal copy of one of two mutated genes; the CNGA-3 or CNGB-3 gene, directly into the eye, restoring vision. Cataldo's myopia is so severe that her risk of retinal detachment from any retinal surgery is high, which rules her out for the current trial. In the meantime, Cataldo says she's learned to adapt to achromatopsia and live without limitations.

Cataldo says, "And I hope, ya know, all young achromats, ya know, learn the same thing." 

AGTC, the biotech company that developed the therapies and several u-s universities have successfully tested this therapy in dogs and sheep.


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