A married couple who met over a dissected brain and went on to create the first approved gene therapy for blindness have been awarded one of the most lucrative prizes in science.<\/p>\n
Molecular biologist Jean Bennett and ophthalmologist Albert Maguire share the $3m (\u00a32.2m) Breakthrough prize for life sciences with physician Katherine High for the 25-year-long project, during which the couple adopted a pair of dogs they had treated for blindness.<\/p>\n
The therapy, named Luxturna, was approved in the US in 2017 and has transformed the lives of people born with Leber congenital amaurosis (LCA), a genetic disorder that typically causes total blindness by early adulthood.<\/p>\n
Proof that the therapy worked came in a clinical trial in which one patient described seeing their child\u2019s face for the first time, the fine grain in wooden furniture and branches waving in the wind. Other patients reported similar profound improvements.<\/p>\n
\u201cI was overwhelmed,\u201d said Bennett, who is now retired from the University of Pennsylvania. \u201cIt was one of the most miraculous eureka moments you can imagine.\u201d<\/p>\n
Bennett said it was a \u201ctremendously exciting time\u201d for scientific and medical research, but warned that the US administration\u2019s attacks on science could \u201ccause damage for generations to come\u201d, leading her to fear a brain drain that the country would struggle to recover from.<\/p>\n
\u201cAgendas have become politicised, government agencies that support basic and applied research have been undermined, knowledgable advisers and experts have been dismissed or have fled and revised guidelines contradict decades of rigorous research,\u201d she said.<\/p>\n
The Breakthrough prizes, described by their Silicon Valley founders as the Oscars of science, were handed out on Saturday night at a glitzy ceremony in Los Angeles. Further life science prizes celebrated a gene therapy for sickle cell anaemia and beta thalassaemia, and the discovery of genetic drivers of frontotemporal dementia and ALS, the form of motor neurone disease that affected the cosmologist Stephen Hawking.<\/p>\n
Bennett and Maguire met at Harvard Medical School when they were paired up to dissect a brain. Later, at the University of Pennsylvania, they set about tackling LCA. The disease was linked to faults in a gene called RPE65, but scientists lacked the tools to fix them. Bennett pressed on regardless. \u201cThe nice thing about being young and naive is I didn\u2019t know what I didn\u2019t know,\u201d she said.<\/p>\n
After years of work, Bennett and Maguire developed a gene therapy that smuggled a working version of the gene into retinal cells. Tests in animals and human trials, developed with Katherine High, showed that it restored lost vision. Two dogs that they treated on the way, Venus and Mercury, became the couple\u2019s pets.<\/p>\n
A second life sciences prize went to Swee Lay Thein, a senior investigator at the US National Institutes of Health<\/a>, and Stuart Orkin, a physician-scientist at Harvard Medical School, for work on a gene therapy for sickle cell disease and beta thalassaemia. Both are driven by faults in the adult versions of haemoglobin, the protein that allows red blood cells to ferry oxygen around the body.<\/p>\n