UCL’s Professor Francesco Muntoni has received the 2026 Novo Nordisk Prize for his pioneering research offering hope to children with Duchenne muscular dystrophy.
The prize, worth nearly £600,000 (5 million Danish kroner), has been awarded to Professor Muntoni (UCL Great Ormond Street Institute of Child Health and UCL Queen Square Institute of Neurology) for his work on RNA-based therapies that allow cells to bypass faulty genes, which has demonstrated that even severe inherited diseases can be modified at their molecular source - a shift that reshaped genetic medicine.
The Novo Nordisk Prize recognises active scientists whose work has provided outstanding international contributions to advance medical science and improve people’s lives. The prize is awarded annually by the Novo Nordisk Foundation and is intended to further support biomedical research in Europe.
First treatments for an incurable disease
For decades, Duchenne muscular dystrophy was a diagnosis without effective treatment. It is caused by mutations in the dystrophin gene - the largest gene in the human genome. Without functional dystrophin, muscle cells gradually weaken and break down, affecting skeletal muscle, the heart and, in some patients, cognitive function.
When Professor Muntoni began his career in the late 1980s, researchers had only just identified the dystrophin gene, which encodes the protein essential for maintaining muscle integrity. But doctors still had no way to slow down the disease.
For Professor Muntoni, that gap became a scientific challenge: if the gene was known, could medicine learn to act on it?
Over the following years, through genetic insight, clinical leadership and international collaboration, he became one of the pioneers of antisense oligonucleotide therapies - short, designed strands of genetic material that help cells bypass faulty gene sections. In early clinical trials, he and his collaborators showed in patients that this approach - known as exon-skipping - could restore some dystrophin protein, the missing component in Duchenne muscular dystrophy.
Professor Muntoni said: "Seeing dystrophin reappear in patient muscle biopsies was a profound moment. It showed that genetic intervention was not just theoretical - it was biologically possible."
Those studies helped pave the way for the first approved RNA-based medicines for Duchenne muscular dystrophy in 2016 and 2019 - milestones that showed a fatal genetic disease could be treated by targeting the faulty gene itself.
"Nothing is magic," Professor Muntoni said. "You need to understand the biology and move step by step. Our responsibility is not to promise the impossible, but to move from nothing to something meaningful - and to ensure that each step rests on solid biological evidence."
Correcting the disease at its source
Professor Muntoni’s research clarified how different mutations shape the clinical course, including rare variants that predominantly affect the heart and specific changes linked to cognitive involvement.
At the same time, he led the translational efforts that brought exon-skipping therapies from laboratory concept to clinical reality. His work showed that targeted RNA therapy could partially restore dystrophin production - marking a direct molecular intervention in the disease.
Although current treatments do not cure Duchenne muscular dystrophy, they represent a decisive shift: instead of merely documenting the progression of a genetic disease, clinicians can now intervene at its source.
The success of exon-skipping therapies did more than improve care for people with Duchenne muscular dystrophy, now that RNA-based medicines moved from theory to clinical reality in a severe inherited neuromuscular disorder. In doing so, they established RNA correction as a viable therapeutic strategy - not only in neuromuscular disorders, but across rare genetic medicine more broadly.
Professor Jørgen Frøkiær, Chair of the Committee for the Novo Nordisk Prize, said: "Francesco Muntoni has played a pivotal role in transforming paediatric neuromuscular medicine from descriptive genetics to therapeutic intervention. By linking molecular insight with rigorously designed clinical trials, he helped establish the first generation of RNA therapies for Duchenne muscular dystrophy. Importantly, this demonstrated that RNA-based correction of genetic defects could move from laboratory theory to approved treatment - influencing genetic medicine far beyond neuromuscular disorders.
"This is translational medicine at its best. It is careful, persistent and grounded in biological reality."
From breakthrough to biological realism
RNA therapy marked a breakthrough, but it also revealed how difficult it is to translate genetic insight into durable clinical benefit.
Gene therapy has generated enormous expectations, sometimes framed as a one-time cure. But experience has shown that lasting progress depends less on dramatic claims and more on deep biological understanding.
Professor Muntoni has consistently advocated a biology-driven and ethically grounded approach. He explained: "As a clinician, you must balance hope with realism. Families deserve optimism - but they also deserve honesty about what is possible and what remains uncertain."
Rather than overselling early results, Professor Muntoni has focused on understanding why therapies that appear effective in animal models behave differently in people - and how age, disease stage and tissue biology shape outcomes.
The move from proof-of-concept to biological refinement has defined the field’s second phase, and his work now focuses on next-generation RNA chemistries and the neurological aspects of Duchenne muscular dystrophy, as improved standards of care allow many patients to live into adulthood.
Building a system that turns discovery into treatment
Since moving to the UK in 1993, Professor Muntoni has built one of Europe’s largest paediatric neuromuscular units, at UCL and Great Ormond Street Hospital. The Dubowitz Neuromuscular Centre now assesses more than 1,600 children annually and serves as the UK’s national reference centre for congenital neuromuscular disorders.
He has supervised more than 150 clinical fellows, PhD students and visiting researchers, many of whom now lead programmes in neuromuscular medicine worldwide. Extending this translational focus, he helped establish the Genetic Therapy Accelerator Centre in the UCL Queen Square Institute of Neurology in 2022 to strengthen gene therapy research in neurological disorders.
Through international collaborations, he has helped build a system in which genetic discovery, clinical testing and regulatory approval reinforce one another - ensuring progress beyond any single therapy.
Professor Muntoni said: "No single laboratory can bring a genetic therapy to patients alone. It requires clinicians, molecular biologists, regulatory experts and, above all, patients and families willing to participate in research. Progress is always collective."
Professor Muntoni’s previous accolades include the Jean Aicardi Award from the European Paediatric Neurology Society and the President Award from the Muscular Dystrophy UK. He says the latest recognition is deeply meaningful - not as a personal accolade, but as acknowledgement of decades of collaborative effort.
"This prize is really a tribute to the patients and families who were willing to participate in clinical research when outcomes were uncertain," he said. "Everything we have achieved has depended on their courage - and on the commitment of multidisciplinary teams working across borders."
He added that the award also reflects how far the field has come. "When I started, treating a genetic disease at its cause felt almost unrealistic. Today, it is part of clinical reality. That progress belongs to an entire community."
In connection with the official award ceremony on 24 April, a public open lecture will be delivered by Professor Muntoni at the University of Copenhagen on 23 April.
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