University of Newcastle upon Tyne (UNEW)
Newcastle University is one of the top research-intensive universities in the UK. Newcastle University and Newcastle Hospitals NHS Foundation Trust work together towards the development and application of genomic and translational medicine to improve the health outcomes of people living with neuromuscular diseases. The John Walton Muscular Dystrophy Research Centre (JWMDRC) is a clinical and research reference centre within Newcastle University. The JWMDRC brings together and consolidates Newcastle’s distinguished, international and world-leading record in research and care for neuromuscular diseases. The Centre is an internationally recognised centre of excellence for diagnosis, management and research in the area of rare inherited neuromuscular disorders (NMDs) employing over 80 staff (both clinical and scientific) and treating over 1500 patients annually. It is the base for the nationally commissioned, highly specialised diagnostic and advisory service for the limb girdle muscular dystrophies and attracts both clinical and laboratory referrals from the UK and beyond. The JWMDRC is highly active internationally and nationally in rare diseases and neuromuscular networking and healthcare policymaking and have participated in or led a wide portfolio of such projects.
Founded in 2007 and coordinated by Professors Bushby and Straub, TREAT-NMD, a FP6 Neuromuscular Network of Excellence (FP6 036825), which now runs as the TREAT-NMD Alliance, is a network that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. One of the aims of the network is to develop tools that industry, clinicians and scientists need to bring novel therapeutic approaches through preclinical development and into the clinic, and on establishing best-practice care for neuromuscular patients worldwide. Contributing to TREAT-NMD initiative, the Newcastle team have collaborated to develop a harmonised protocol for MRI in neuromuscular diseases.
Newcastle University has invested heavily over the years in imaging infrastructure and expertise in clinical and pre-clinical MRI, resulting in major imaging research and clinical trial programme funding. The Newcastle MR Centre has an international profile for molecular metabolic measurements using multi-nuclear spectroscopy and holds funding for development of novel contrast technologies for MRI. The imaging team have extensive expertise in the evaluation of structural changes in tissue, both in muscle and in brain, where they have published widely on atrophy, brain connectivity and brain networks in relation to neurodegenerative conditions.
Main tasks in the project
The main task in the project is to lead work package 6, which will study the structural integrity of the brain in DMD and BMD patients and in dystrophic mdx mice. Newcastle will contribute to work package 5 – the neuropsychological and imaging assessments of patients with Duchenne and Becker muscular dystrophy and control groups.
Team
Professor Volker Straub
Position in Organisation
Professor of Neuromuscular Genetics
Harold Macmillan Professor of Medicine
Deputy Dean, Translational and Clinical Research Institute
Director, John Walton Muscular Dystrophy Research Centre,
Newcastle University, Newcastle upon Tyne, UK
Profile
Prof Straub was trained as a Paediatric Neurologist at the University of Düsseldorf and the University of Essen in Germany. He wrote his PhD thesis on Duchenne muscular dystrophy (DMD) and worked as a postdoctoral research fellow in Dr Kevin Campbell’s laboratory at the Howard Hughes Medical Institute, University of Iowa, USA. Volker has a long-standing interest in the pathogenesis of genetic muscle diseases, with research using zebrafish and mouse models. His current research also involves the application of magnetic resonance imaging, next generation sequencing and other –omics technologies for the characterization of primary neuromuscular disorders. He is the CI/ PI for many natural history and interventional trials in DMD, SMA, LGMD, Pompe disease and other NMDs. He is the President of the World Muscle Society and is an author on >300 peer-reviewed publications.
Role in the project
Professor Straub will provide expert leadership, guidance and oversight to the project with a particular focus on work package 6.
Dr. Nathalie Doorenweerd
Position in Organisation
Senior Researcher
Profile
As senior researcher Dr. Doorenweerd is currently working for the John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle Upon Tyne and the C.J. Gorter Center for High Field MRI, Leiden University Medical Centre. She continues her work on the brain involvement in dystrophinopathies.
Role in the project
Dr. Doorenweerd will lead work package 6. She will take responsibility for the imaging protocol for DMD and BMD patients and coordinate clinical and preclinical imaging. She will also co-design and execute analyses of the patient MRI data. She will additionally be involved in work package 2 and 5. She will take part in project meetings and present project output at those meetings and scientific events. She will co-supervise the scientific personnel appointed on the project related to the clinical and preclinical MRI.
Dr Catherine Hankinson
Position in Organisation
Clinical Psychologist in Paediatric Neuropsychology
Profile
Dr Hankinson has worked in neuropsychology at the Newcastle Hospitals NHS Foundation Trust since 2012, having worked with both adults and children during this time. She was appointed lead for paediatric neuropsychology in October 2019. She has throughout her career undertaken neuropsychological assessments of children presenting to neurological service, including children with motor disorders.
Role in the project
Dr Hankinson will be responsible for the supervision and administration of cognitive/neuropsychological testing
Dr Kieren Hollingsworth
Position in Organisation
Senior Lecturer in Magnetic Resonance Physics
Profile
Dr Hollingworth is an MR physicist with 17 years’ experience of developing and applying MR methodologies in biomedical science. He led the imaging methodology and central analysis on the LGMD2I/R9 natural history project, and leads on the imaging of neuromuscular diseases at Newcastle University. He has 94 full peer reviewed publications.
Role in the project
Dr Hollingworth will be imaging methodology lead at Newcastle, overseeing method implementation and patient scanning with oversight of image analysis actions to be undertaken in Newcastle.
