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- Chair of Paediatric Neurology
- ICH Developmental Neurosciences Prog
- UCL GOS Institute of Child Health
- Faculty of Pop Health Sciences
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 (http://www.ucl.ac.uk/ich/research/developmental-neurosciences ) 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 (http://www.ucl.ac.uk/ukpdc/collaborators/ion-mrc-centre-for-neuromuscular-diseases).
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 (www.skip-nmd.eu).
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.
|1984||MD||Doctor of Medicine – Medicine/Surgery||Universita degli Studi di Cagliari|