Gene therapy for rare genetic blindness wins prestigious Champalimaud Vision award

By Dr. Ananya Mandal, MDSep 5 2018

A team of seven researchers collaborating from United States and Britain have found a way to use gene therapy to cure a rare form of childhood blindness that occurs due to a genetic predisposition.

The team consequently has won a 1 million euro ($1.15 million) prize Tuesday according to the Champalimaud Foundation in Portugal.

This Champalimaud Foundation award is an annual one that started in 2006 and is awarded to scientific research in vision. It is considered to be one of the largest science prizes that surpasses even the Nobel Prize in Physiology or Medicine ($987,000). It is based in Lisbon and was founded at the bequest of industrialist Antonio Champalimaud from Portugal who died in 2004. It awards scientific research in oncology and neuroscience.

Alfred Sommer, Dean Emeritus of the Johns Hopkins Bloomberg School of Public Health and chairman of the award jury said in a statement, “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.”

The other honourable jury Members were Amartya Sen, Paul Sieving, Jacques Delors, Graca Machel, Gullapalli Rao, Jose Cunha-Vaz, Carla Shatz, Joshua Sanes, Mark Bear and Susumu Tonegawa.
Michael Redmond of the National Eye Institute in Maryland, one of recipients of the award had worked to find the cause of Leber congenital amaurosis (LCA) in a mutated gene. Three teams of researchers came together next to devise a gene therapy that would replace the gene within the eye and restore vision in the children and adults suffering from one form of LCA.

According to the foundation, this method has opened up an “entire field of gene therapy for human disease.” Others on the team include Jean Bennett, Albert Maguire from Scheie Eye Institute, University of Pennsylvania School of Medicine and Children’s Hospital of Philadelphia, Samuel Jacobson and William Hauswirth from Scheie Eye Institute, University of Pennsylvania School of Medicine and the University of Florida College of Medicine. Drs Robin Ali and James Bainbridge were from University College London and Moorfields Eye Hospital.

The team used a gene augmentation therapy that involved delivery of healthy genes using biologically engineered viruses that were rendered harmless but could carry the corrected gene into the cell. The viruses helped replace the defective gene RPE65 using gene augmentation therapy. The RPE65 gene was earlier cloned by Michael Redmond who discovered its role in vitamin A metabolism in the eye. When this gene is mutated, there is functional blindness in children from birth.

The foundation labelled this gene augmentation therapy as an “elegant solution”.

Source: http://www.fchampalimaud.org/