Professor Francesco Muntoni's Group

Francesco Muntoni is a Professor of Paediatric Neurology, trained in Italy but working in the UK since 1993. They are the Director of the Dubowitz Neuromuscular Centre, at the Great Ormond Street UCL Institute of Child Health and Great Ormond Street Hospital for Children in London. In the Institute of Child Health, they led the Developmental Neuroscience Programme between 2008 and 2018 and has also been Theme Lead in the Novel Therapies of the Biomedical Research Centre in the Institute and Great Ormond Street Hospital between 2008 and 2022.

Since 2022, they are also the director of the Genetic Therapy Accelerator Centre at the Queen Square Institute of Neurology, in collaboration with the Institute of Child Health. This cross-faculty collaboration is focused on novel genetic therapies for neurological disorders.

• ORCID: 0000-0002-9102-5232

Our research

Our main interests are in pathogenesis, deep phenotyping, novel genes identification and translational research aspects in paediatric neuromuscular disorders, especially Duchenne muscular dystrophy, spinal muscular atrophy and congenital myopathies. Regarding gene identification, in collaboration with colleagues from the UK, Europe, USA and Australia, they have been involved in the identification of more than 30 neuromuscular disease genes.

They are currently involved and leading several natural history studies and clinical trials using antisense oligonucleotide approaches, and AAV gene therapy. Their investigator-initiated studies in the last 20 years have led to 2 FDA approved therapies for Duchenne muscular dystrophy (eteplirsen and golodirsen), and several other antisense and AAV gene therapies in industry sponsored studies.

The ongoing efforts of our Genetic Therapy Accelerator Centre lab are to identify novel targetable genetic variants responsible for a variety of central and peripheral nervous system using RNA therapies, led by Dr Sara Aguti; and the development of AAV gene therapies for neurological disorders, focusing on promoter and transgene design, Led by Professor Jo Ng,

Research Publications: 800+ original manuscripts, H-index 153, Citations 91000+

Selected publications

Contribution to Translational Research

• Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda E, Bourke J, Wells DJ, Dickson G, Wood MJA Wilton SD, Straub V, Kole R, Shrewsbury S, Sewry C, Morgan J, Bushby K, Muntoni  F. Exon skipping and dystrophin restoration in Duchenne Muscular Dystrophy patients after systemic phosphorodiamidate morpholino oligomer treatment. The Lancet, 2011;378:595-605.
• Frank D, Schnell F, Akana C, El-Husayni S, Desjardins C, Morgan J, Charleston J, Sardone V, Domingos J, Dickson G, Straub V, Guglieri M; Mercuri E, Servais L, Muntoni F on behalf of the SKIP-NMD Study Group*. Increased Dystrophin Production With Golodirsen in Patients with Duchenne Muscular Dystrophy. Neurology, 2020, May 26;94(21):e2270-e2282
• Servais L, Mercuri E, Straub V, Guglieri M, Seferian AM, Scoto M, Leone D, Koenig E, Khan N, Dugar A, Wang X, Han B, Wang D, Muntoni F on behalf of the SKIP-NMD Study Group. Long-term Safety and Efficacy Data of Golodirsen in Ambulatory Patients With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial. Nucleic Acid Ther. 2022 Feb;32(1):29-39.
• Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, Leon-Astudillo C, Nascimento A, Proud C, Schara-Schmidt U, Veerapandiyan A, Zaidman CM, Guridi M, Murphy AP, Reid C, Wandel C, Asher DR, Darton E, Mason S, Potter RA, Singh T, Zhang W, Fontoura P, Elkins JS, Rodino-Klapac LR. AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial. Nat Med. 2025 Jan;31(1):332-341
• Bönnemann CG, Belluscio BA, Braun S, Morris C, Singh T, Muntoni F. Dystrophin Immunity after Gene Therapy for Duchenne’s Muscular Dystrophy. N Engl J Med. 2023 Jun 15;388(24):2294-2296.
• Muntoni F, Nascimento A, Shin J, Guglieri M, Stettner GM, Veerapandiyan A, Gallo S, Shi H, Gundapaneni B, Neelakantan S, Lobello K, Shen Q, Levy DI, Mercuri E; CIFFREO Study Group. Safety and efficacy of fordadistrogene movaparvovec in ambulatory participants with Duchenne muscular dystrophy (CIFFREO): a phase 3, double-blind, randomised, placebo-controlled study. Lancet Neurol. 2026 Mar;25(3):245-255. 

Contribution to deep phenotyping and novel gene identification

• Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting C, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin a2 deficiency and abnormal glycosylation of a-dystroglycan. American Journal of Human Genetics, 2001;69:1198-209.
• Stevens E, Crass K, Cirak S, Foley R, Torelli S, Willer T, Manzini C, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan G, Walsh C, Hurles M, Campbell K,3 UK10K consortium, Stemple D, Lin Y, Muntoni F. Mutations in B3GALNT2 cause congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan. AJHG, 2013 Mar 7;92(3):354-65.
• Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, Macarthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan. Am J Hum Genet. 2013; 93(1):29-41
• Logan CV, Szabadkai G, Sharpe J, Parry DA, Torelli S, Childs AM, Kriek M,  Phadke R, Johnson CA, Roberts N, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GWE, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT , Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R, UK10K, Duchen MR, Muntoni F, Sheridan E. Loss of function mutations in micu1 cause a novel disorder affecting brain and muscle and reveal primary alterations in mitochondrial Ca2+ signalling as a new disease mechanism. Nat Genet. 2014 Feb;46(2):188-93
• Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, ………………. Muntoni F, Straub V. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet. 2024 Mar;56(3):395-407

Members of the lab

GTAC is comprised of three groups

Professor Jo Ng’s Group

• Ms Jana Aref – PhD Student
• Dr Margherita Berti – Research Fellow
• Dr Haoyu Chi – Research Fellow
• Mr Jethro Choi – PhD Student
• Ms Hester Wing Sum Chu – PhD Student
• Ms Alexandra Cioffi – Research Assistant
• Ms Eleanor Davis – Research Assistant
• Ms Anis Hassan – Research Assistant
• Dr Benjamin Jarvis – Research Fellow
• Ms Camila Maine – PhD Student
• Professor Jo Ng – Professorial Research Fellow
• Dr Ricardo Parolin Schnekenberg – Research Fellow
• Dr Francesca Picco – Research Fellow
• Dr Riccardo Privolizzi – Research Fellow
• Dr Rubing Shi – Research Fellow
• Dr Konstantina Tetorou – Research Fellow
• Ms Camila Vallve – Research Assistant
• Ms Kristina Zhelcheska – PhD Student

Dr Sara Aguti’s Group

• Dr Sara Aguti – Senior Research Fellow
• Dr Mary Le Hong Ngoc Nguyen – Research Fellow
• Mr Daniel Casado Rodrigo – MSc Student
• Ms Konstantina Sifaki – MSc Student

Dr Massimo Ganassi’s Group

• Ms Esther Adeleye – Research Assistant
• Dr Massimo Ganassi – Senior Research Fellow
• Ms Susanna Rathnayaka – Research Assistant

Additional Members of the Muntoni Group

• Ms Sophie Ostler – Centre Administration Officer