Francesco Muntoni

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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 Great Ormond Street Institute of Child Health and honorary consultant at Great Ormond Street Hospital (GOSH) for Children, London, UK (https://www.ucl.ac.uk/ich/research/developmental-neurosciences/molecular-neurosciences/dubowitz-neuromuscular-centre). In the Institute I am Theme Lead in the Novel Therapies of the Biomedical Research Centre in the Great Ormond Street Hospital. 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). At GOSH I lead the Highly Specialised Service for rare Congenital Muscular Dystrophies and Congenital Myopathies.

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 chief investigator in more than a dozen between natural history studies and clinical trials in paediatric neuromuscular disorders, including the exon skipping coordinated by me via an EU funded program (https://cordis.europa.eu/result/rcn/189889_en.html), in partnership with Sarepta.

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 in the last fifteen years.

 

 

Francesco's Network Involvement

Francesco is involved in these different areas of the network...
Board of Healthcare Providers - Member

Healthcare Provider

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission


“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern