UCL GOS Institute of Child Health
London, United Kingdom
Introduction
I am physician scientist with an interest in paediatric neuromuscular diseases. I am a paediatric neurologist by training with an interest in pathogenesis, deep phenotyping, gene identification and translational research for neuromuscular conditions.
I have been able to participate to all WMS meetings so far, and in 2015 I co-organised with Professor Ros Quinlivan the 20th WMS meeting in Brighton. I have been a WMS Executive Board member between 1998 and 2010, and then again since 2015.
Having been trained with Victor Dubowitz, I have seen how the WMS has evolved since its inception, and my role in the Executive board of WMS - in collaboration with the rest of the board- has been that of ensuring a balance between the unique and successful ethos of the society and its amazing annual meetings, and the increasing presence of industry. In addition I have also contributed to the identification of strategies to ensure participation to colleagues at various stages of their career.
I am a Professor of Paediatric Neurologist and Director of the Dubowitz Neuromuscular Centre, at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, and director of the Genetic Therapy Accelerator at the UCL Institute of Neurology, both in London, UK. In the Institute of Child Health I Lead in the Novel Therapies programme of the Biomedical Research Centre and between 2008 and 2017 led the Developmental Neuroscience Programme. Since 2008 I am co-directed the MRC Centre for Neuromuscular Diseases at UCL, led by Prof Mike Hanna. At an European level, I have been very actively involved as a co-organiser of several European Neuromuscular Centre workshops, and I have coordinated 3 EU funded projects, one of them, BIND EU, ongoing.
Specific areas of my research interest are natural history studies and clinical trials in Duchenne muscular dystrophy and spinal muscular atrophy; and the identification of neuromuscular disease genes.
I have authored more than 800 publications, I wrote with Alan Emery and Ros Quinlivan several editions of a book on Duchenne muscular dystrophy, my H-index is 131, my i10- index is 661 and my citations 65571.
