Francesco Muntoni graduated in Italy in 1984 and completed his training in Child Neurology and Psychiatry in 1989. Since his degree he has worked on childhood neuromuscular disorders. Following the retirement of Professor Dubowitz from the Hammersmith Hospital Neuromuscular Centre in 1996, he was nominated Head of this unit, initially as a Senior Lecturer, then as a Reader, and from 1998, as a Professor of Paediatric Neurology. The unit moved to UCL Institute of Child Health & Great Ormond Street Hospital in London in 2008. This Unit is one of the largest Paediatric Neuromuscular Units in Europe, and is designated by the Department of Health as the National Reference centre in UK for a series of congenital neuromuscular disorders. Professor Muntoni is the Lead for the Institute of Child Health Developmental Neuroscience programme; and the lead for the Novel Therapies section of the Great Ormond Street Hospital Biomedical Research Centre. Professor Muntoni’s areas of interest include the clinical, molecular, genetic and biochemical aspects of childhood neuromuscular diseases. Specific research interests focus on the identification of genes responsible for congenital muscular dystrophies and congenital myopathies, with the identification of more than 30 disease genes. He is also actively involved in translational research and clinical trials in muscular dystrophies and spinal muscular atrophy.
Professor Muntoni has been Chair of the Myotubular Trust Scientific Advisory Board since the Trust was founded in 2006.
Francesco Muntoni also speaks in the short film of the Myotubular Trust on the possibilities of a gene therapy for myotubular myopathy: