UCL  IRIS
Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data shown on the profile page to:

http://www.ucl.ac.uk/finance/secure/research/post_award
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
 More search options
Prof Francesco Muntoni
30 Guilford Street
London
WC1N 1EH
Appointment
  • Chair of Paediatric Neurology
  • ICH - Dubowitz Neuromuscular Centre
  • Dept of Neurosciences & Mental Health
  • Faculty of Population Health Sciences
 
 
Research Themes
Research Summary

I am a clinical paediatric neurologist with an interest in molecular aspects of neuromuscular disorders. I joined the Neuromuscular Unit at the Hammersmith in 1993, and became the Head of the Unit in 1996.

From a clinical perspective, this Neuromuscular Unit, named after Professor Victor Dubowitz, is the largest Paediatric Neuromuscular Unit in UK; it is recognised by the Muscular Dystrophy Campaign (the largest charity in this field); since 2001 the Unite was designated as a National reference centre by the Department of Health (NSCAG) for the work on clinical, pathological and genetic aspects related to congenital muscular dystrophies and myopathies. The Unit has its own diagnostic pathology laboratories, of which I am also responsible.

Regarding my contribution to research, an early original contributions was the discovery that the X-linked dilated cardiomyopathy (XLDCM) is secondary to a dystrophin gene abnormality (the same gene responsible for Duchenne muscular dystrophy). I have further characterised the molecular mechanisms responsible for this unusual phenotype since.

Another important area 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). My own group has also 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. Allelic mutations in this gene are also found in severe variants of muscular dystrophy associated with structural brain involvement. We generated a knock-in animal model which phenotype faithfully recapitulates the human condition recapitulates and demonstrated that mutations in FKRP are responsible for a novel pathway involved in both muscular degeneration and for neuronal migration defects. Form a translational research perspective, I am interested in manipulation of splicing of genes involved in neuromuscular disorders. I am interested in the control of splicing of the SMN2 gene involved in spinal muscular atrophy, and have identified, in collaboration with Prof Eperon, a tailed antisense oligonucleotide which carry sequences that are involved in the recruitment of splicing proteins and induce a crucial exon inclusion in SMN2. A different approach, the use of antisense oligonucleotide to induce exon skipping in Duchenne muscular dystrophy, culminated in a Department of Health funded grant to establish a consortium for a phase I/II therapeutic trial of intramuscular antisense morpholino oligonucleotide in Duchenne muscular dystrophy that started in 2005 and was completed in 2008 (Muntoni PI). I 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. This study started in February 2009 and is finished in March 2010. The results are 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, of which I am the Deputy Director.



Academic Background
1984 MD Doctor of Medicine Universita degli Studi di Cagliari
Please report any queries concerning the data shown on this page to:

https://www.ucl.ac.uk/hr/helpdesk/helpdesk_web_form.php
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by