Gene Therapy Breakthrough

A team of scientists has been awarded the Breakthrough Prize for their work in developing the first FDA-approved gene therapy for an inherited condition, which dramatically improves sight in people with a form of blindness called Leber Congenital Amaurosis (LCA). The therapy, named Luxturna, was approved in the US in 2017 and has transformed the lives of people born with LCA. The Breakthrough Prizes are considered the 'Oscars of Science' and are given out in five categories, including Life Sciences, Fundamental Physics, and Math, each with an accompanying $3 million award. The scientists, including Jean Bennett, Albert Maguire, and Katherine High, developed a gene therapy that smuggled a working version of the gene into retinal cells, restoring lost vision in patients with LCA. The therapy has shown transformative outcomes for patients with sickle cell disease and independence from regular blood transfusions for patients with transfusion-dependent beta thalassemia. The breakthrough has also led to the introduction of a new gene-editing therapy, Casgevy, which is now available in Qatar for patients aged 12 years and older, living with transfusion-dependent beta thalassemia (TDT) and severe sickle cell disease (SCD). Casgevy is the first-in-class CRISPR/Cas9 gene-edited therapy that targets the genetic root cause of these inherited blood disorders.