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2018 António Champalimaud Vision Award winners announced today

The 2018 Champalimaud Vision Award distinguishes first successful gene therapy to cure an inherited human disease.

  1. 4.9.2018

    This year, the world’s largest in the area of vision, recognises the research teams led by Jean Bennett, Albert Maguire, Robin Ali, James Bainbridge, Samuel Jacobson and William Hauswirth, for the development of gene therapy for the Leber Congenital Amaurosis, a genetic form of childhood blindness, whose genetic cause was discovered by Michael Redmond, also awarded. Their work resulted in the first gene therapy cure for an inherited human disease.

    This research opens the way to revolutionary new treatments for genetic conditions. The work of these researchers built on the previous cloning of the RPE65 gene by Michael Redmond and his elucidation of its critical role in vitamin A metabolism for vision.

    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. 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.

    The three research teams that developed this revolutionary gene therapy 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;

    Working synergistically, these scientists engineered solutions for 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.




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