Great Ormond Street Hospital NHS Foundation Trust

I am a Professor of Paediatric Neurologist, trained in Italy but working in UK since 1993. I currently am the Director of the Dubowitz Neuromuscular Centre, at the UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK (https://www.ucl.ac.uk/ich/research/developmental-neurosciences/molecular-neurosciences/dubowitz-neuromuscular-centre). In the Institute I am 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 (both since 2008). I am also Co-Director of the Medical Research Council–funded Neuromuscular Translational Research Centre at UCL.

My main interests are in pathogenesis, deep phenotyping, novel gene identification and translational research aspects especially in Duchenne muscular dystrophy and spinal muscular atrophy. I am currently involved in several natural history studies and clinical trials, one of them on exon skipping coordinated by me via an EU funded program.

Regarding gene identification, in collaboration with colleagues from UK, Europe, USA and Australia, I have been involved in the identification of more than 30 neuromuscular disease genes.

Originally from Italy, Dr Mariacristina Scoto graduated in medicine and completed with honors, specialising in Child and Adolescent Neuropsychiatry at the University of Catania.  At the beginning of 2008, she joined the Dubowitz Neuromuscular Centre, at the UCL Institute of Child Health and Great Ormond Street Hospital for eight months and again in 2009 for a further four months, as part of her three years higher degree (PhD) program. She completed her higher degree focused on characterising the genotype-phenotype correlation of a large cohort of patients with Selenoprotein1-related myopathy. Prior to join again the Dubowitz team as a clinical researcher in 2010, she worked for 15 months as a Child and Adolescent Neuropsychiatrist Consultant at the Hospital “Madonna delle Grazie” of Matera (Italy). Dr Scoto works currently as a Specialty Doctor in Neuromuscular at Great Ormond Street Hospital and is Honorary Senior Research Associate at UCL Great Ormond Street Institute of Child Health. She is principal investigator (PI) and co-PI of a number of clinical trials, in both Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA), and in a national clinical and research network called SMA REACH UK.

Marta is an enthusiastic and dedicated individual with extensive and in depth experience in the coordination and management of paediatric clinical trials, from first in human/child and early phase studies to gene therapy trials.

I’m a Senior Research Coordinator at Great Ormond Street managing a portfolio of neuromuscular studies. This involves setting up, day to day management of and closing of clinical trials.

I have previously worked at GOSH as a data manager on a number of ongoing clinical trials. I have recently joined the GOSH neuromuscular research team as a coordinator and will be working on the set up and delivery of a range of studies within the portfolio.

I qualified as a children’s nurse in 2016 and have worked in a range of settings including a general paediatric and surgical ward, a busy trauma A&E and abroad. I recently joined the clinical research facility at GOSH and now work on a number of studies within the renal and neuromuscular portfolio.

I am a physiotherapist with a specific interest in paediatric neurological and neuromuscular rehabilitation and research. Currently doing a Master's degree in UCL and working on numerous clinical trial involving children with Duchenne Muscular Dystrophy, Spinal Muscular Atrophy and Charcot-Marie-Tooth disease. 

I qualified as a physiotherapist in 2015 from Cardiff University and started my career in Birmingham. Moving to Great Ormond Street in London in 2019 to pursue a career in neuromuscular paediatric physiotherapy. I have a specific interest in neuromuscular assessment and research. I am currently completing my paediatric physiotherapy master's degree at University College London.  I work on many clinical trials as a clinical evaluator as well as assessing neuromuscular children who attend Great Ormond Streets specialist neuromuscular service.