Francesco Muntoni, PhD | DuchenneXchange

welcome to DuchenneXchange

- a positively charged Duchenne muscular dystrophy community.
  • join today!
Researchers

Francesco Muntoni, PhD

Researcher
Director, Dubowitz Neuromuscular Centre
Institute of Child Health
University College London
30 Guilford Street
London, United Kingdom

Professor Francesco Muntoni is a Paediatric Neurologist with an interest in clinical, pathological and molecular aspects of neuromuscular disorders.

Dr. Muntoni is the Director of the Dubowitz Neuromuscular Centre at the University College London (UCL) Institute of Child Health and Great Ormond Street Hospital for Children, UK. He works as a Professor of clinical Paediatric Neurology and Honorary Consultant in Paediatric Neurology at the University College London. He also holds the position of the Head of the Developmental Neuroscience Programme and Theme Lead in the Novel Therapies of the Biomedical Research Centre in the Great Ormond Street Hospital, since 2008. Dr. Francesco is also engaged as the Co-Director of the Medical Research Council–funded Neuromuscular Translational Research Centre at UCL.

Dr. Muntoni’s research interests include pathogenesis, deep phenotyping, novel gene identification and translational research aspects, specialized for Duchenne muscular dystrophy and spinal muscular atrophy. He is involved in the identification of more than 20 neuromuscular disease genes so far. He is involved in several natural history studies and clinical trials such as exon skipping. His group led on the development of genetic therapies in Duchenne muscular dystrophy, with the first clinical trials using morpholino antisense oligonucleotide as genetic therapy for this condition.

 

Representative Publications:

Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial

Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy

Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study

Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy

rareRelated