What is it about a new gene therapy that restored vision to a boy born blind?

[Marzana M]

I read in the news that a new gene therapy restored vision to a boy born blind. Can anyone explain this?

[Fazil Hussein]

The congenital eye disease treated was Leber Congenital Amaurosis type 4 (LCA4), caused by mutations in the AIPL1 gene. The normal product of this gene is the aryl hydrocarbon receptor-interacting protein-like 1, which is essential for stabilizing and folding photoreceptor proteins (especially PDE6) in retinal cells.

The treatment was performed at Great Ormond Street Hospital (GOSH) in collaboration with Moorfields Eye Hospital and UCL Institute of Ophthalmology. A total of four children received the therapy.

Read this:

Genetic therapy gives infants life-changing improvements in sight | UCL News

 

 

• This reply was modified 1 week, 1 day ago by Fazil Hussein.

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