Steering Committee

Kate became Director of Research and Innovation Muscular Dystrophy UK in 2018. She works with Trustees, clinicians, researchers and – most importantly – MDUK’s supporters to deliver research that is meaningful to patients living with neuromuscular conditions. There are over 110,000 adults and children living with over 60 different types of neuromuscular conditions the UK. These are rare and very-rare conditions many of which have no treatment, although several advanced therapies are coming through the pipeline for a number of them.

Kate has over 15 years’ experience of research funding and strategy through senior roles at the Medical Research Council, Wellcome Trust and latterly, MDUK. Kate has a PhD in Neuroscience from the University of Cambridge. She worked as a post-doctoral assistant at the University of Basel and in the Department of Diagnostic Imaging at the University Children’s Hospital in Zurich before taking up a post at Wellcome in 2005.

Dr Farrugia graduated in Medicine and Surgery from the University of Malta in 1995. She then moved to the UK in 1997 where she first undertook training in postgraduate medicine, then specialist training in Neurology in Aberdeen Royal Infirmary, Aberdeen, Ninewells Hospital, Dundee and at the Institute of Neurological Sciences in Glasgow. Dr Farrugia trained in Neuromuscular Disorders at the Muscle & Nerve Centre in Oxford (from 2002 -2004) under the supervision of the late Professor John Newsom-Davis, and Professor Angela Vincent and Dr David Hilton Jones. She graduated with a DPhil (University of Oxford) in 2005. The research work undertaken during her DPhil was based on the clinical (including neurophysiological and radiological) features of MuSK antibody positive myasthenia gravis and laboratory-based characteristics of MuSK antibody positive serum.

Dr Farrugia took up a Consultant Neurologist post at the Queen Elizabeth University Hospital Glasgow in 2007. She set up the Myasthenia Gravis Service for the West of Scotland in 2007 and has been a Lead Clinician for myasthenia gravis since 2007 and for adult muscle disorders since 2015.

Dr Farrugia’s research interests include: various aspects of myasthenia, including tools to measure disease burden and fatigue; myotonic dystrophy; muscle imaging in neuromuscular disorders; mitochondrial disorders; and spinal muscular atrophy.

Joseph Irwin is actively involved in advocating for the inclusion of SMA in newborn screening programs across Europe, aiming for implementation no later than 2025. He has participated in various research programs, including Treatnmd and the RD-Connect project, which focus on developing treatments for SMA and other rare diseases. Irwin's advocacy efforts are part of a broader movement to ensure that SMA is prioritized in healthcare systems, particularly in light of the ongoing COVID-19 pandemic.

James is a Neurology Consultant at the Manchester Centre for Clinical Neuroscience, Salford. James is particularly interested in the evaluation of patients with complex neuromuscular syndromes, working as a member of the neuromuscular MDT at Salford and running the SMA assessment and treatment service. James has completed a PhD in inflammatory muscle disease. This included evaluation of the usefulness of muscle MRI, investigation of serum muscle enzymes in the estimation of disease activity in myositis, and further elucidation of the relevance of anti-cN-1A autoantibodies in patients with inclusion body myositis.

Dr Marini-Bettolo completed her medical degree and training in Neurology at the University of Rome Sapienza and has always had a special interest in neuromuscular disorders. During her training in Neurology she was awarded with a Scientific Fellowship by the European Federation of Neurological Societies which gave her the opportunity to join the Neuromuscular team at Imperial College London, working on a lab-based project on inflammatory myopathies. In 2015 she completed her PhD in neuromuscular disorders at Imperial College London. Since joining the John Walton Muscular Dystrophy Centre at Newcastle University, Chiara has been leading the Clinical Team and the Highly Specialised Service for Limb-girdle muscular dystrophies (LGMDs). She runs adult and paediatric neuromuscular clinics, and more recently has led the implementation of a novel treatment currently available under various access schemes in Newcastle.

Dr. John McConville is a Consultant Neurologist at the South East Health Trusts in Northern Ireland. He is the clinical lead for Adult Neuromuscular Diseases in Northern Ireland. He has a particular interest in Myasthenia Gravis and Congenital Myasthenic Syndromes. MuSK antibody myasthenia gravis was the subject of his PhD which was conducted in Oxford and was supervised by Professor Angela Vincent.

Dr Andria Merrison trained in Neurology and undertook subspecialist training in Neuromuscular Disease (in London & Oxford) and Intensive Care Medicine (in Bristol).

Her period of research, studying the muscle regenerating capacity of human bone marrow derived stem cells, led to being an awarded an MD in 2008.

Dr Merrison is also a Fellow of the Royal College of Physicians and a member of the Association of British Neurologists Neuromuscular Disease Specialist Interest Group; setting standards and publishing guidelines for the care of people living with Neuromuscular conditions in the UK.

Dr Merrison is a board member of the NHS England Neurosciences Clinical Reference Group and the South West Clinical Senate. She is also the NHS England Improving Value Lead for Neurosciences.

Robert is a Consultant Physiotherapist at the John Walton Muscular Dystrophy Research Centre. He is responsible for providing different aspects of patient care and for assessing disease progression in neuromuscular patients. His research activity includes development of outcome measures, natural history studies and supportive care interventions studies.

Matt Parton was appointed in 2007 to a consultant neurologist position between the neuromuscular service at Queen Square and Whipps Cross Hospital.

Originally from Italy, Dr Mariacristina Scoto is a Consultant in Neuromuscular Translational Research at Great Ormond Street Hospital for Children and is Honorary Associate Professor at UCL Great Ormond Street Institute of Child Health, London. 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). Her main interest is on the evolving natural history and standard of care of spinal muscular atrophy with the advent of innovative treatments, and is Co-PI of the SMA REACH (REsearch And Clinical Hub) UK Network.

Portia is Advocacy Lead at Spinal Muscular Atrophy UK and is the UK delegate for SMA Europe. Through her close links to the SMA community, she works to advocate for improved access to treatments, therapies and services for all those living with SMA.

Portia is the mother of four children, her youngest son lives with SMA type 1 and was one of the first children to be treated for the condition in the UK in 2017. Due to late diagnosis, he lives with complex needs, giving Portia strong motivation in her work as a member of the UK SMA Newborn Screening Alliance.

Portia has a degree in Psychology and 11 years’ experience as a Primary School teacher.