Speaker Profile
Francesco Muntoni

Francesco Muntoni

Pediatric Nephrology
London, England, United Kingdom

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Professor Francesco Muntoni is a clinical paediatric neurologist with an interest in molecular aspects of neuromuscular disorders. He joined the Neuromuscular. rofessor Munoti’s work has been the establishment of international collaboration networks allowing the identification of a number of disease genes involved in neuromuscular disorders (12 novel genes in collaboration with external collaborators). The Dubowitz NM Group has identified 2 novel loci for forms of congenital muscular dystrophy and three novel disease genes. One of these 2 genes (FKRP) proved not only to be relevant for a rare form of congenital dystrophy, but also for a very common form of mild limb girdle muscular dystrophy.Prof Muntoni subsequently obtained an MRC translational research grant to extend this study into a dose escalation, repeated intravenous morpholino antisense administration into young boys with Duchenne. The results of the study were very encouraging and have led to additional funding to perform additional studies both to target Duchenne individuals at later stage of disease progression, but also to assess the efficacy and safety of a new generation of antisense oligonucleotide, with the plan to perform a proof of concept study in 2013. These studies are supported by the GOSH Biomedical Research Centre and from the UCL MRC Neuromuscular Translational Research Centre