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- Leber congenital amaurosis (LCA) is a rare genetic eye disease that appears at birth or in the first few months of life.

- It's caused by a mutation in a gene, such as RPE65, which is important for vision.

- Luxturna is an (FDA approved) gene therapy.

- This AAV2 vector delivers a functional copy of the RPE65 gene to the photoreceptor cells that need it, stopping symptoms getting worse!

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This is one example of how researchers are taking advantage of adeno-associated virus (AAV) vectors to treat diseases.

 Adeno-associated virus (AAV) vectors:

  • Efficient targeted delivery in vivo: many different serotypes (e.g. AAV2 used here) with different tissue or cell-type tropism.
  • Parent virus is not pathogenic in humans.
  • Long-term expression from long-lived cells.
  • Relatively easy to produce high quantities.

 

 Click here to discover how an AAV9 vector is also being used to cure paralysis!

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Other viral vectors are also being used or developed to treat disease: 

   

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Find out more about the work of the Gill Hyde Gene Medicine research group at the University of Oxford.