About the Steering Committee
The committee is responsible for reviewing all requests for data from the registry. This is intended to be a streamlined and rapid procedure in order not to delay approval.
Ms Emma-Jayne Ashley
Cure Myotonic Dystrophy UK Charity
Emma-Jayne Ashley is co-founder of Cure Myotonic Dystrophy UK Charity. She became involved with all things DM after her son Dregan was diagnosed with paternally inherited Congenital Myotonic Dystrophy, giving her a personal insight into the day-to-day challenges which are faced by the community. The delay in diagnosis, and the years of difficulty leading up to it, instigated a dedication to help others and improve diagnosis and widespread understanding of the condition. Cure DM is committed to raising awareness, facilitating research and supporting families affected by DM, particularly those with congenital and childhood onset.
Mrs Margaret Bowler
Myotonic Dystrophy Support Group (MDSG)
Margaret Bowler is the founder member of the Myotonic Dystrophy Support Group started in the UK in 1989 following the diagnosis of her husband, Keith and 12 year old son, Peter. Since then 2000+ families have joined MDSG.
Patient Family Representative and Award Winning Artist, Glasgow
Jacqueline Donachie is an award-winning Scottish artist. She is based in Glasgow and has forged an international reputation for a socially-engaged art practice that is rooted in an exploration of individual, family and collective identity and the structures, platforms and spaces (both actual and conceptual) through which it is constructed and supported. An ongoing interest in biomedical research, wellbeing and the relationship between families affected by genetic disorders and the scientific and medical world that both treat and research them stems from the diagnosis of myotonic dystrophy in her own family almost 20 years ago.
Dr Mark Hamilton
West of Scotland Clinical Genetics Service, Glasgow
Mark is a newly appointed Consultant in Clinical Genetics with the West of Scotland Genetics Service. He has a longstanding interest in myotonic dystrophy, having recently completed a clinical PhD research project exploring central nervous system effects of the condition. In his current role, Mark supervises the delivery of the DM1 management clinic for the West of Scotland and sits on the subgroup committee of the Scottish Muscle Network responsible for producing and auditing evidence-based national guidelines for DM1.
Dr Channa Hewamadduma
Sheffield Teaching Hospitals Foundation Trust, Sheffield
Channa currently works as a Consultant Neurologist with specialist interests in neuromuscular disorders (NMD) and motor neurone disease (MND) at the Sheffield Teaching Hospitals Foundation Trust. He is passionate about improving care for the DM1 cohort which is the largest group of adult muscular dystrophies. In his current work he manages over 120 DM1 patients with a large neuromuscular team. Channa has also conducted a large audit in the regional cohort of 114 DM1 patients he works with in line with published care recommendations and is conducting research into assessing fatigue and quality of life in DM1 patients and other neurodegenerative conditions.
Dr Chiara Marini-Bettolo
The John Walton Muscular Dystrophy Research Centre, Newcastle
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.
Prof Darren Monckton
Institute of Molecular Cell and Systems Biology, University of Glasgow, Glasgow
Darren Monckton is Professor of Human Genetics and Director of the University of Glasgow’s Wellcome Trust four-year PhD programme. His research group is investigating the basis of genetic instability in disorders such as Myotonic Dystrophy and Huntington disease, with the aim of providing improved diagnostics, treatments and cures. He has published numerous scientific papers and book chapters, and has presented his research in many invited seminars and lectures and is also a Scientific Advisor to the Myotonic Dystrophy Support Group (UK) and the Myotonic Dystrophy Foundation (USA).
Dr Richard Orrell
Department of Clinical Neuroscience, Institute of Neurology, University College London, London
Dr Richard Orrell is Senior Lecturer in Clinical Neuroscience at the Institute of Neurology, University College London. He is a Consultant Neurologist at the Royal Free Hospital London, the National Hospital for Neurology and Neurosurgery, and also sees patients at the QE2 Hospital, Welwyn Garden City.
Dr Orrell has a longstanding clinical and research interest in muscle disorders. His inspirations for myotonic dystrophy have come from many myologists and geneticists, especially Dr Russell Lane and Professor Keith Johnson at Imperial College London and Dr Berch Griggs, Dr Richard Moxley III, and Dr Charles Thornton, at the University of Rochester Medical Centre, New York, USA, where he spent one year as a Visiting Professor, supported by the Medical Research Council Travelling Fellowship Programme.
Dr Mark Rogers
Institute of Medical Genetics, University Hospital of Wales, Cardiff
Mark Rogers is a Consultant Clinical Geneticist and the Clinical Lead in Neuromuscular Genetics at the University Hospital of Wales in Cardiff. He qualified in 1984 at St Thomas’ Hospital, London and then initially trained as a GP. Always interested in genetics, he changed directions to train in Clinical Genetics at the University Hospital of Wales, Cardiff including one year as a fellow at the Murdoch Institute, Melbourne, Australia. Since 1995 he has been part of the Cardiff Clinical Genetics team providing adult neuromuscular disease management, for which he is now Clinical Lead. Dr Rogers has published articles and book chapters on Myotonic Dystrophy and is an advisor to the Myotonic Dystrophy Support Group.
The John Walton Muscular Dystrophy Research Centre, Newcastle
Jassi is a Neuromuscular Research Physiotherapist and has worked at the John Walton Muscular Dystrophy Research Centre, at Newcastle University, since March 2017. Jassi currently works with both paediatric and adult patients with myotonic dystrophy which has provided him with a comprehensive understanding of their health and social care needs. Clinically, he has updated both clinical assessment and referral pathways for the cohort of DM1 and DM2 patients. From a research perspective, he has been involved in year 2 and 3 of the PHENO-DM1 natural history study and will be a clinical evaluator for a forthcoming CTIMPS study in Newcastle.
Dr Chris Turner
National Hospital for Neurology and Neurosurgery, London
Chris Turner has been working as a consultant at the MRC Centre for Neuromuscular Disease, Queen Square and UCLH since 2007. He has a specialist interest in muscle disease and runs a twice monthly Myotonic Dystrophy clinic at Queen Square.