The Steering Committee
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.
Members:
Prof. Chiara Marini-Bettolo
Principal Investigator & Steering Committee Chair
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.
Dr Fiona Norwood
Steering Committee Vice Chair
King’s College Hospital, London
Dr Fiona Norwood is a Consultant Neurologist and Honorary Senior Lecturer at King’s College Hospital in London. She runs a twice-weekly muscle clinic with multidisciplinary support from the regional muscle physiotherapist and patient advocate from the MDC. Her particular interest is in genetic muscle diseases including FSHD. Her research background is in biochemical studies of the dystrophin protein, work which she completed at Guy’s Hospital and the MRC Laboratory of Molecular Biology in Cambridge. She has worked and studied in several muscle centres in the UK and abroad and has been at King’s since 2005.
Prof Giorgio Tasca
The John Walton Muscular Dystrophy Research Centre, Newcastle
Giorgio is a Clinical Professor of Neuromuscular Science and Honorary Consultant Neurologist based at the John Walton Muscular Dystrophy Research Centre since 2023. He was trained in Neurology and completed a PhD in Neuroscience in 2014, focused on the use of muscle imaging in the diagnostic workup of known and novel diseases. FSHD has always been one of Giorgio’s clinical and research interest areas, and he is currently leading on FSHD research at JWMDRC. He was awarded the Patricia Salustri 2015 prize of the Association “Amis FSH”, the 2021 FSHD Society Young Investigator Award, and more recently an Academy of Medical Sciences (AMS) Professorship.
Kate Adcock
Muscular Dystrophy UK
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.
Andrew Graham
Muscular Dystrophy UK
Andrew was involved with MDUK for a number of years, originally as Vice President, becoming a Board Trustee and Treasurer in 2010. In leading a fundraising initiative on FSHD, Andrew recognised the importance of patient registries as part of the preparation for Clinical Trials. Andrew is now also a trustee for FSHD UK.
Mark Mencias
The Atkinson Morley Neuromuscular Centre, St George's Hospital, London
Mark is clinical nurse specialist who set-up a nurse-led neurogenetics clinic based in Atkinson Morley Regional Neuroscience Centre in St George’s Hospital. This is a project funded through the South East Genomic Medicine Service Alliance with an aim to improve the diagnosis and health outcomes of patients with rare genetic neurological diseases particularly those with neuromuscular disorders such as FSHD. The nurse-led service works with the multidisciplinary team and the link between neurology, clinical genetics and research. Mark has a research background in drug development in rare and ultrarare diseases.
Dr Emma Matthews
The Atkinson Morley Neuromuscular Centre, St George's Hospital, London
Emma is a Consultant Neurologist and Reader of Neurology at the Atkinson Morley Neuromuscular Centre, St George’s Hospital London. She runs twice weekly neuromuscular clinics including a transition service for young adults with neuromuscular disorders. These are supported by a neuromuscular physiotherapist and regional care advisors. Emma has a research background in genetic neuromuscular disorders and in clinical trials for rare diseases. She is a member of FSHD UK and the European FSHD clinical trial readiness network working to increase clinical trial capacity and readiness. She is also very interested in patient and public engagement and has helped to establish a local FSHD patient group at St George’s.
Robert Muni-Lofra
The John Walton Muscular Dystrophy Research Centre, Newcastle
Robert is a Consultant Neuromuscular Physiotherapist at the John Walton Muscular Dystrophy Research Centre. Robert is responsible for providing different aspects of the patient’s care and to assess disease progression whilst supporting the medical staff in the diagnosis of new patients.
Dr Tracey Willis
Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry
Tracey Willis is a Paediatric Neurologist with an interest in neuromuscular diseases. She completed her paediatric neurology training in Birmingham and since then has worked as a paediatric neurologist in Birmingham and Auckland, New Zealand. Between 2008 and 2012 she was the Muscular Dystrophy Campaign (MDC) fellow at the Institute of Human Genetics in Newcastle with Professor Straub and was involved in designing and setting up the Global FKRP registry for limb girdle muscular dystrophy 2I (LGMD2I), congenital muscular dystrophy (MDC1C) and other FKRP related disorders. Her work has also involved coordinating a multicentre MRI/MRS study in LGMD2I. Dr. Willis now works as the lead clinician at RJAH, Oswestry in the muscle service and is involved in the diagnosis and care of a broad spectrum of patients with neuromuscular diseases, including Pompe disease.