Professor of Paediatric Neurology and Honorary Consultant in Paediatric Neurology
I am a Professor of Paediatric Neurologist, trained in Italy but working in UK since 1993. I currently am the Director of the Dubowitz Neuromuscular Centre, at the UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK (https://www.ucl.ac.uk/ich/research/developmental-neurosciences/molecular-neurosciences/dubowitz-neuromuscular-centre). In the Institute I am the Head of the Developmental Neuroscience Programme and Theme Lead in the Novel Therapies of the Biomedical Research Centre in the Great Ormond Street Hospital (both since 2008). I am also Co-Director of the Medical Research Council–funded Neuromuscular Translational Research Centre at UCL.
My main interests are in pathogenesis, deep phenotyping, novel gene identification and translational research aspects especially in Duchenne muscular dystrophy and spinal muscular atrophy. I am currently involved in several natural history studies and clinical trials, one of them on exon skipping coordinated by me via an EU funded program.
Regarding gene identification, in collaboration with colleagues from UK, Europe, USA and Australia, I have been involved in the identification of more than 30 neuromuscular disease genes.