Finding and treating the cause of inherited blindness

Finding and treating the cause of inherited blindness
Credit: Shutterstock

European scientists have made a major breakthrough in the treatment of inherited retinal diseases.

Many disorders which cause blindness are due to mutations in genes that are expressed in the of the retina which process light. The European AAVEYE ('Gene Therapy for Inherited Severe 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 to the retina, the pathogenesis of photoreceptor degeneration, and design of for inherited retinal diseases.

Professor of , Alberto Auricchio from TIGEM who has been leading the project says: 'The main highlight of the project has been the identification of a vector platform for retinal photoreceptor gene therapy. This will help people with blinding conditions which require gene therapy directed to the photoreceptors.'

During the course of the project, the AAVEYE team also demonstrated that the based on adeno-associated virus serotype 8 (AAV2/8) is the most efficient way to transfer genes to photoreceptors of rodents and large animals.

They also developed a way of significantly slowing down the degeneration of photoreceptors and restoring function.

In addition, the project has generated a considerable amount of pre-clinical data, which will be used for future clinical trials. The professor 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.'

Meanwhile Professor Auricchio continues to work on gene therapy approaches for retinal degeneration, and is involved in the coordination of a clinical trial (which is also funded by the European Union) for a rare inherited disease called mucopolysaccharidosis VI.

More information: TIGEM www.tigem.it/en
AAVEYE project factsheet cordis.europa.eu/projects/rcn/89476_en.html

add to favorites email to friend print save as pdf

Related Stories

One-two punch could be key in treating blindness

Apr 09, 2013

Researchers have discovered that using two kinds of therapy in tandem may be a knockout combo against inherited disorders that cause blindness. While their study focused on man's best friend, the treatment ...

Recommended for you

Multidose eye drop approach approved by joint commission

Dec 14, 2014

(HealthDay)—A policy and procedural approach to the use of multidose eye drops has been approved by The Joint Commission and can reduce costs for patients and facilities, according to an article published ...

Retina's cancer-like metabolism could lead to new treatments

Dec 05, 2014

Eye surgeons at the University of Adelaide have discovered that the retina in human eyes uses energy in a very similar way to cancer, which could lead to improved understanding of cancers as well as eye disease such as macular ...

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.