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Gene therapy breakthrough wins world's largest vision award

Seven scientists in the United States and Britain who have come up with a revolutionary gene therapy cure for a rare genetic form of childhood blindness won 1 million Euro. The 2018 António Champalimaud Vision Award winners, who have transformed medical care with their work, are:  Jean Bennett, Albert Maguire, Robin Ali, James Bainbridge, Samuel Jacobson, William W. Hauswirth and Michael Redmond.

The 2018 António Champalimaud Vision Award winners

2018 António Champalimaud Vision Award Winners: Jean Bennett, Albert Maguire, Robin Ali, James Bainbridge, Samuel Jacobson, William W. Hauswirth and Michael Redmond

The extraordinary scientific advances made by the 2018 Award winners led to the successful treatment of a genetic cause of childhood blindness, a version of Leber Congenital Amaurosis, and demonstrated the potential for future developments in gene therapy to cure other inherited diseases. 

Hereditary retinal diseases are the leading cause or one of the leading causes of working age blindness and the second leading cause of blindness in children in Europe, the US and much of Asia. This heterogeneous group of diseases is caused by changes in genes important in the retina, having in common poor prognosis with very significant loss of vision (Kumaran, N, Ali R, et al. Retinal Gene Therapy. BMB, 2018, 1-13). 

The 2018 António Champalimaud Vision Award winners, who have transformed medical care with their work, are:  

  • Jean Bennett, M.D. Ph.D. and Albert M. Maguire, M.D.; Scheie Eye Institute, University of Pennsylvania School of Medicine and Children’s Hospital of Philadelphia; 
  • Robin Ali, Ph.D. and James Bainbridge M.D., Ph.D.; Institute of Ophthalmology of the University College London and Moorfields Eye Hospital; 
  • Samuel G. Jacobson, M.D., Ph.D. and William W. Hauswirth, Ph.D.; Scheie Eye Institute, University of Pennsylvania School of Medicine and University of Florida College of Medicine; 
  • Michael Redmond, Ph.D.; National Eye Institute, U. S. National Institutes of Health. 

Visual perception starts in the eye with the activation of neural responses triggered by light. 50 years ago, George Wald received the Nobel prize for demonstrating the central role of vitamin A in biochemical events that convert light into neural visual impulses in the eye. 25 years later, Michael Redmond cloned the RPE65 gene and demonstrated that it is essential for converting dietary vitamin A into the biological form that is active in retinal photo-receptor cells and it was soon found that RPE65 gene mutations render children functionally blind from birth. 

Working synergistically, the teams of Bennett and Maguire, Ali and Bainbridge, Jacobson and Hauswirth engineered the elegant solution of providing a functional replacement of RPE65 using gene augmentation therapy in the eye. This restored vision to treated children and adults, and in turn their success enabled the entire field of gene therapy for human disease.

The Champalimaud Foundation

The Champalimaud Foundation focuses on cutting-edge research and strives to stimulate new discoveries and knowledge which can improve the health and well-being of people around the world. The Champalimaud Centre for the Unknown, based in Lisbon, Portugal, hosts the Foundation’s activities in the fields of neuroscience and oncology by means of research programmes and the provision of clinical care of excellence. The fight against blindness is also supported through a focused outreach programme.

In seeking to achieve significant advances in biomedical science the Champalimaud Foundation has adopted a translational methodology, which establishes a direct link between research carried out in the laboratory and the diagnosis and treatment offered in the clinic. This connection and interdependency is at the core of the Foundation’s mission to bring the benefits of biomedical science to those most in need.

More than anything, the Champalimaud Foundation works to improve the health and well-being of humanity by actively searching for solutions which can alleviate the burden of disease in individuals and in society as a whole.

The António Champalimaud Vision Award

The António Champalimaud Vision Award has the support of Vision 2020 – The Right To Sight, a global initiative for the prevention of blindness launched in association with the World Health Organisation and the International Agency for the Prevention of Blindness.

The award is given alternately between contributions to overall vision research (even numbered years) and contributions to the alleviation of visual problems, primarily in developing countries (odd numbered years). The recipients of the award are productive laboratories/organisations or collaborative efforts and this may involve groups from more than one institution or discipline. The Award does not focus only on the largest global organisations but on organisations of any size that can demonstrate high impact achievements. These could be on a local, national, regional or international level.

The jury of the award consists of a distinguished panel of leading international scientists and of exceptional public figures involved in meeting the needs of the developing world.

The award may be used in any way that furthers the outstanding contribution of the recipients.

More information: http://first.fchampalimaud.org/en/vision-award/