Gene therapy pioneers win major science prizes

Breakthrough Prizes in Life Sciences have been awarded to two teams of scientists for their work on gene therapies for inherited blood and blindness conditions.

Professors Jean Bennett, Katherine High, and Albert Maguire from the University of Pennsylvania in Philadelphia shared a prize for their research on Leber congenital amaurosis (LCA), a rare genetic disease leading to severe vision loss in childhood. Professor Stuart Orkin from Harvard University in Cambridge, Massachusetts, and Dr Swee Thein, a senior investigator at the National Institutes of Health (NIH) in Bethesda, Maryland, were rewarded for their work on blood disorders, sickle-cell disease and beta-thalassemia.   

'This year's laureates show what great science can do – deepen our understanding of the world and lead to discoveries that improve millions of lives,' said Mark Zuckerberg and Priscilla Chan, two of the founders of the Breakthrough Prize. 'We're proud to recognise their work.'

Professors Bennett and Maguire, a married couple, have been studying gene therapy for retinal diseases for several decades. They turned their attention to LCA, a condition caused by a mutation in the RPE65 gene that often results in near-complete blindness in early adulthood. In collaboration with Professor High, they trialled a treatment known as Luxturna, which was the first gene therapy for an inherited disease to receive FDA approval in 2017. In the USA, nearly every eligible LCA patient has received this treatment, which is now available on the NHS (see BioNews 1036 and 1336).

Professors Orkin and Thein's research focuses on the genetics of sickle cell disease and beta-thalassemia. These conditions respectively affect the structure and levels of adult haemoglobin, the protein that predominantly carries oxygen around the body after birth. However, certain affected individuals who keep on producing fetal haemoglobin, which is normally only created while in the womb, have reduced symptoms. Both scientists identified BCL11A as the main gene shutting down the production of fetal haemoglobin.

This finding led to the development of Casgevy, the first CRISPR-based gene therapy approved by the FDA for both conditions in 2024 (see BioNews 1319). The treatment targets the genetic sequence controlling the activation of BCL11A in red blood cells, allowing the body to resume fetal haemoglobin production and improving quality of life for patients. Casgevy was recommended for use on the NHS in England for people living with a severe form of beta-thalassaemia in August 2024 (see BioNews 1251) and for some people living with a severe form of sickle cell disease in February 2025 (see BioNews 1275).

A third Breakthrough Prize in Life Sciences was also awarded to Professor Rosa Rademakers from the Mayo clinic in Jacksonville, Florida, and Dr Bryan Traynor, a senior investigator at the NIH, for discovering the C9orf72 hexanucleotide repeat expansion, a mutation that is the most common genetic cause for both frontotemporal dementia and amyotrophic lateral sclerosis.

Prize recipients acknowledged the contributions of teams of dedicated researchers, patients and families, with Professor Orkin highlighting 'lots of hard work by many people.'

Both he and Professor Bennett also expressed concern over current research funding in the USA and its effect on science.

'We were in a golden age of biomedical science. Universities and medical centres were operating at high efficiency and speed. Now there are attacks on academic institutions, they're disassembling scientific infrastructure that was created over many years,' Professor Orkin told the Guardian. 'I'm at a total loss to explain why people in leadership would want to do this.'