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Researchers win €1m prize for gene therapy for eye disease

5 September 2018

Two UCL Institute of Ophthalmology researchers, Professors Robin Ali and James Bainbridge, are among six international winners of the largest prize in vision research, the 2018 António Champalimaud Vision Award, worth €1 million.

James Bainbridge and Robin Ali

The winners are being recognised for developing a successful gene therapy treatment for a genetic retinal disorder, a form of Leber Congenital Amaurosis, which causes childhood blindness. This groundbreaking research demonstrated the potential for future developments in gene therapy to cure other inherited diseases.

Building on a previous finding that a RPE65 gene mutation renders children functionally blind from birth, the research teams engineered a functional replacement of RPE65 using gene augmentation therapy in the eye, restoring vision to children and adults.

It works by injecting a deactivated virus into the eye that contains a working copy of the RPE65 gene.

The award is given out annually by the Champalimaud Foundation, based in Portugal.

The researchers are now working to optimise the technique and to develop new gene therapy treatments for other inherited retinal conditions. Both the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have addressed the unmet need for these therapies by designating them for accelerated approval in urgent cases.

Professors Ali and Bainbridge work within the NIHR Biomedical Research Centre (BRC) at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, enabling them to combine academic research with close contact with patients. Professor Bainbridge is also a consultant retinal surgeon at Moorfields.

“These are exciting times in ophthalmology and we feel very honoured to be recipients of the Champalimaud Award,” said Professor Ali.

“This is a great opportunity to acknowledge the hard work and dedication of the many individuals in our team over the past two decades and we are delighted that the work of our team has been recognised in this way as we continue to strive to develop gene and stem cell therapies for other ocular conditions.”

“We are delighted to be among the recipients of the prestigious 2018 Champalimaud Vision Award for our work in gene therapy,” Professor Bainbridge added.

“Genetic medicine can change lives for the better and offers hope to people with sight-threatening conditions. We will continue to work to address their needs by optimising and expanding gene therapy techniques.”

Chairman of the Vision Award Jury, Professor Alfred Sommer, Dean Emeritus of the Johns Hopkins Bloomberg School of Public Health, said: "This year's Champalimaud laureates are recognised for their development of the many interrelated techniques necessary for human gene therapy, and for applying these to successfully treat Leber's Amaurosis, which otherwise results in blindness at an early age. This is the first, and still only example of successful gene therapy in humans that corrects an inherited genetic defect and is therefore a milestone in medical therapeutics. " 

Professors Robin Ali and James Bainbridge are also researching stem cell therapies, for people with advanced eye diseases who cannot expect to benefit from gene therapies because there aren’t enough retinal cells left to treat.

They have shown that by starting with stem cells, the transplantation of healthy photoreceptors into models of partial retinal degeneration can rescue visual function in rodents, and are working to refine this process for use in people.

Professor Ali’s lab is also working on induced pluripotent stem cell models of retinal diseases. From blood samples from someone with inherited retinal disease, they generate stem cells in the lab with the relevant mutation and grow ‘mini retinas’ in a dish. In this way they can learn how mutations affect retinal health to cause sight impairment, and to use as a model for testing how the human eye might respond to new therapies.

Champalimaud Vision Award winners

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Images

  • Professors James Bainbridge and Robin Ali
  • Award winners (Credit: Rui Ochoa, Source: Champalimaud Foundation)

Media contact

Chris Lane

Tel: +44 (0)20 7679 9222

Email: chris.lane [at] ucl.ac.uk