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24/3/2019  
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HEALTH
Blindness

What is the cause of inherited blindness?


European scientists have made a major breakthrough in the treatment of inherited retinal diseases.
Redacción 20/6/2013 Send to a friend
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Many disorders which cause blindness are due to mutations in genes that are expressed in the photoreceptor cells of the retina which process light.

The European AAVEYE (´Gene Therapy for Inherited Severe Photoreceptor Diseases´) project set out to develop gene transfer techniques for the photoreceptor neurons in the retina using a virus (adeno-associated virus, AAV) as a form of transport. The team focused on pre-clinical proof-of-concept (POC) gene therapy strategies to tackle these debilitating diseases.

Over the course of three years, an international consortium from the UK, Switzerland, Italy and Estonia worked on the project coordinated by Fondazione Telethon TIGEM, in Italy. With EU-funding of nearly EUR 3 million the subsequent research involved specialists in the fields of AVV-mediated gene transfer to the retina, the pathogenesis of photoreceptor degeneration, and design of molecular diagnostics for inherited retinal diseases.

In addition, the project has generated a considerable amount of pre-clinical data, which will be used for future clinical trials. Professor of medical genetics, Alberto Auricchio, explains: ´A clinical trial is not a simple endeavour; you need a significant amount of funding. Once we have new funding opportunities to cover a clinical trial for these rare disorders, then we will be ready to start the next stage.´


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