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I am a
paediatric neurologist with an interest in clinical and molecular aspects of
neuromuscular disorders. I graduated in Italy in 1984 and completed my training
in Child Neurology and Psychiatry in 1989. Since obtaining my degree I worked
on childhood neuromuscular disorders, initially in Italy
and, since 1993, in London.
Originally appointed as a Lecturer at the Neuromuscular Centre of the Hammersmith Hospital, directed by Professor Victor
Dubowitz, since 1996 I became Head of this unit, initially as a Senior
Lecturer, then as a Reader, and from 1998, as a Professor of Paediatric
Neurology at Imperial College London. In 2007 I moved with the entire clinical,
pathology and research teams of the Dubowitz Neuromuscular centre from Imperial College
to UCL Institute of Child Health, in London.
About the Cente
Form a clinical perspective the centre, one of the largest in Europe, recognised and funded by the Muscular Dystrophy Campaign as one of the UK centres of excellence, offers comprehensive assessment, diagnosis, management and treatment for all childhood neuromuscular conditions.
It was designated in 2001 as a National reference centre by the Department of Health via NSCAG (now NCG) for the work on clinical, pathological and genetic aspects related to congenital muscular dystrophies and congenital myopathies.
The Centre has its own diagnostic muscle pathology laboratories, and offers a comprehensive repertoire of genetic testing for congenital muscular dystrophies and myopathies.
My Early Work
Regarding my contribution to research, one of the early original contributions was the discovery that the X-linked dilated cardiomyopathy (XLDCM) is secondary to a dystrophin gene abnormality (allelic mutations in dystrophin cause Duchenne muscular dystrophy).
Another important area has been the establishment of international collaboration networks allowing the identification of a dozen of disease loci and genes involved in neuromuscular disorders, in collaboration with external groups. My own group identified 2 novel loci for forms of congenital muscular dystrophy and 3 novel disease genes. One of these genes (FKRP) is responsible for the most common form of mild limb girdle muscular dystrophy in UK. Mutations in FKRP identified a novel pathway responsible for both muscular degeneration and neuronal migration defects, aspects which are being further characterised in relevant models of disease.
My recent work has increasingly being oriented towards translational applications of improved knowledge of specific neuromuscular conditions. I am working on regulating splicing of the SMN2 gene in spinal muscular atrophy; and in antisense oligonucleotide induced exon skipping in Duchenne muscular dystrophy.
This latter interest culminated in a Department of Health funded grant (2005) to establish a consortium for a phase I/II therapeutic trial of antisense oligonucleotides in Duchenne muscular dystrophy (the MDEX Consortium http://www.mdex.org.uk/). This study was completed in 2008.
In view of the exciting data generated by this project, in collaboration with AVI Biopharma (http://www.avibio.com/) we have obtained an MRC translational research grant to assess the safety and efficacy of morpholino antisense oligonucleotides repeated intravenous administration into young boys with Duchenne. This study will be completed in 2Q2010 and further MDEX collaborative clinical and preclinical studies in this area are being planned.
Finally, I collaborate with Dr Jenny Morgan, in our group, on various aspects of muscle stem cells with the long term aim of assessing the feasibility of therapeutic intervention using specific subset of muscle stem cells in children affected by muscular dystrophy.
Contact and Links
Professor Francesco Muntoni
Professor of Paediatric Neurology
Head of the Dubowitz Neuromuscular Centre
UCL Institute of Child Health
30 Guilford Street
Telephone: 020 7905 2111
Fax: 020 7905 2832
Great Ormond Street Hospital
Institute of Child Health