Francesco Muntoni, MD, FRCPCH, FMed Sci

Francesco Muntoni is a paediatric neurologist with an interest in clinical, pathological and molecular aspects of neuromuscular disorders. He is Director of the Dubowitz Neuromuscular Centre, a leading clinical and research institution for children affected by neuromuscular disorders, at the UCL Institute of Child Health and Great Ormond Street Hospital for Children in London, UK. He graduated in medicine in Italy in 1984 and completed his training in child neurology and psychiatry in 1989. He took up a post at the neuromuscular centre of the Hammersmith Hospital, London, which was directed by Professor Victor Dubowitz. He was appointed as Head of this unit in 1996 and as Professor of Paediatric Neurology at Imperial College London in 1998. The entire Dubowitz centre moved to its current location in 2007. He led the Developmental Neuroscience Programme at the Institute between 2008 and 2017 and is currently Theme Lead in Novel Therapies at the Biomedical Research Centre at Great Ormond Street Hospital.

Professor Muntoni’s research has focused on the genetic heterogeneity of neuromuscular disorders, with the identification of more than 20 disease genes so far, and on translational research aspects of neuromuscular disorders, particularly Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). He also has a special interest in pathogenesis, deep phenotyping, and novel gene identification. He was the Principal Investigator on the first two trials in which the morpholino antisense oligonucleotide eteplirsen for DMD was originally developed in the UK, and he coordinates a consortium originally funded by the European Commission to develop a new morpholino antisense oligonucleotide to target a different subgroup of boys with DMD boys (www.skip-nmd.eu). He is the UK chief Principal Investigator for clinical trials on DMD, myotubular myopathy, and SMA and has authored more than 400 peer-reviewed manuscripts.