World-first gene therapy wins world's top €1m vision prize

Seven scientists from the USA and the UK have shared the largest annual award related to vision research (worth €1 million).

The 2018 Champalimaud Vision Award was awarded to research teams that were instrumental in the development of gene therapy for a genetic form of childhood blindness called Leber Congenital Amaurosis (LCA). This is the first example of successful gene therapy in humans and it has paved the way for the entire field of gene therapy for human disease.

'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,' said Professor Alfred Sommer, chairman of the Champalimaud Vision Award jury. The prize is given by the Champalimaud Foundation based in Lisbon, Portugal.

LCA results in severe visual impairment with symptoms often beginning in infancy and leading to complete blindness in early adulthood. It occurs due to a genetic mutation in cells found in the retina. One of the award winners, Dr Michael Redmond at the National Eye Institute in Bethesda, Maryland discovered that the genetic mutation responsible for the condition was a mutated RPE65 gene.

This discovery then enabled the other winning research teams to work to develop a gene therapy that functionally replaces RPE65 and successfully treats this condition in both adults and children.

The treatment involves injecting a patient with a healthy form of the RPE65 gene, which is delivered to the retina cells by a harmless virus. The virus then spreads among the unhealthy cells and leaves the correct gene in place of the mutation.

The other winners of the 2018 Champalimaud Vision Award are Dr Jean Bennett, Dr Albert Maguire and Dr Samuel Jacobson at the Scheie Eye Institute of the University of Pennsylvania in Philadelphia, Pennsylvania; Dr William Hauswirth at the University of Florida College of Medicine; Professor Robin Ali and Professor James Bainbridge at University College London and Moorfields Eye Hospital in the UK.

The first Champalimaud Vision Award was awarded in 2006.