Khaberni - A scientific team that developed the first approved gene therapy for cases of blindness received the “Breakthrough” award in life sciences, globally one of the most prestigious scientific awards, in recognition of a research path that lasted 25 years and led to the development of “Luxturna”, designated for patients with congenital Leber's amaurosis.
The prize, valued at three million dollars, was shared by molecular researcher Jean Bennett, ophthalmologist Albert Maguire, and physician Katherine High, following their success in developing a treatment that restores a healthy version of the gene responsible for the disease to retinal cells, which helped restore some sight for patients who were at risk of complete loss at an early age.
The treatment was approved in the United States in 2017, and marked a turning point for patients with this genetic disorder. Clinical trials showed remarkable results, as one patient reported being able to see his child's face for the first time, while others reported significant improvements in their ability to see details they previously could not distinguish.
The researchers' journey began at Harvard University and continued at the University of Pennsylvania, where they focused on treating the disease linked to a mutation in the "RPE65" gene. After years of testing on animals and human trials, the team achieved the treatment that paved the way for its medical approval.
Other research honored with the same award contributed to the development of gene therapy for sickle cell anemia and beta thalassemia, along with discoveries related to genetic causes of frontotemporal dementia and amyotrophic lateral sclerosis.
The occasion was accompanied by criticisms made by several of the winners towards the American administration’s policies on scientific research, warning that undermining scientific institutions and weakening funding for research could have long-term effects on the medical science sector in the United States.
