For decades, Duchenne muscular dystrophy was a diagnosis without effective treatment. Through pioneering work on RNA-based therapies that allow cells to bypass faulty genes, Francesco Muntoni helped demonstrate that even severe inherited diseases can be modified at their molecular source — a shift that reshaped genetic medicine and earns him the 2026 Novo Nordisk Prize.
When Francesco Muntoni began his career in the late 1980s, researchers had only just identified the gene behind Duchenne muscular dystrophy (DMD): the dystrophin gene, which encodes the protein essential for maintaining muscle integrity. For families, however, the breakthrough changed little. Doctors could name the cause, but they still had no way to slow down the disease.
For 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 (ASO) 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 DMD.
“Seeing dystrophin reappear in patient muscle biopsies was a profound moment,” Muntoni recalls. “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 DMD in 2016 and 2019 — milestones that showed a fatal genetic disease could be treated by targeting the faulty gene itself.
“Nothing is magic,” Muntoni says. “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
Duchenne muscular dystrophy 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.
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. With the first regulatory approvals in 2016 and 2019, 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, emphasises the broader significance:
“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.”
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.
Muntoni has consistently advocated a biology-driven and ethically grounded approach.
“As a clinician, you must balance hope with realism,” he explains. “Families deserve optimism — but they also deserve honesty about what is possible and what remains uncertain.”
Rather than overselling early results, Muntoni has focused on understanding why therapies that appear effective in animal models behave differently in patients — 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 United Kingdom in 1993, Muntoni has built one of Europe’s largest paediatric neuromuscular units at University College London 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 at UCL 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.
“No single laboratory can bring a genetic therapy to patients alone,” Muntoni says. “It requires clinicians, molecular biologists, regulatory experts and, above all, patients and families willing to participate in research. Progress is always collective.”
Recognising a career that changed what is possible
The Novo Nordisk Prize recognises active scientists whose work has provided outstanding international contributions to advance medical science and improve people’s lives.
Francesco Muntoni’s career reflects a rare combination of genetic discovery, translational execution and clinical leadership. From gene identification to approved RNA therapies and their continued refinement, he has charted a path from discovery to clinical intervention. His work illustrates how molecular medicine advances — not through single dramatic leaps, but through careful translation of biological insight into clinical practice.
“This is translational medicine at its best,” Professor Frøkiær adds. “It is careful, persistent and grounded in biological reality.”
For Muntoni, the 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 says. “Everything we have achieved has depended on their courage — and on the commitment of multidisciplinary teams working across borders.”
He adds 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 2026, a public open lecture will be delivered by Francesco Muntoni. The lecture will take place at University of Copenhagen on Thursday, 23 April.
About Francesco Muntoni
1984 – MD, University of Cagliari, Italy
1989 – Specialisation in Child Neurology and Psychiatry, Italy
1993 – Moved to the United Kingdom; appointed at Hammersmith Hospital, Imperial College London
1998- PROFESSOR OF PAEDIATRIC NEUROLOGY, IMPERIAL COLLEGE LONDON
2007 – Transferred his clinical, research and diagnostic department to the UCL Institute of Child Health, London
[2007] – Professor of Paediatric Neurology, University College London
[2007] – Director, Dubowitz Neuromuscular Centre, Great Ormond Street INSTITUTE OF CHILD HEALTH, London
2022 – Co-founder, DIRECTOR Genetic Therapy Accelerator Centre, UCL
Selected distinctions include:
Ottorino Rossi Award (2022)
World Duchenne Organisation Leadership Award (2022)
Jean Aicardi Award, European Paediatric Neurology Society (2023)
President Award, Muscular Dystrophy UK (2024)
About the Novo Nordisk Prize
The Novo Nordisk Prize recognises active scientists who have provided outstanding international contributions to advance medical science to benefit people’s lives. The prize is awarded annually by the Novo Nordisk Foundation and is intended to further support biomedical research in Europe.
The prize is accompanied by DKK 5 million (€670,000) and comprises a DKK 4.5 million research grant and a personal award of DKK 0.5 million. The Foundation will award an additional DKK 0.5 million for hosting an international symposium within the recipient’s field(s) of research.
Further information
University College London and Great Ormond Street Hospital
Communications Office
Daisy Holden
Research communications and engagement manager
Great Ormond Street Hospital for Children NHS Foundation Trust
[email protected]
Phone: 07591 433847
Novo Nordisk Foundation:
Christian Mostrup,
Director, Public Relations
+45 3067 4805
[email protected]
