MenuWelcome – to our centreLeadershipOur principal investigators – Professor Volker Straub leads the John Walton Muscular Dystrophy Research Centre and he holds joint appointments between Newcastle University and the NHS. Along with Emeritus Professor Kate Bushby, they have over 160 publications in the last three years. Professor Straub splits his time between research and clinical commitments, with a focus on neuromuscular disease, and he provides leadership across the five strands of the centre.Professor Straub has recently been joined by Professor Jordi Díaz-Manera who is working as Professor of Neuromuscular Disorders and as Honorary Consultant Clinical Geneticist with the Newcastle Hospitals NHS Foundation Trust. Giorgio Tasca Clinical Professor of Neuromuscular Science Volker Straub Harold Macmillan Professor of Medicine Consultant in Neuromuscular Genetics and Paediatrics Emma Heslop DMD Hub Manager & Networking Strand Lead Michela Guglieri Senior Clinical Lecturer, Honorary Consultant Neurologist Jordi Díaz-Manera Professor of Neuromuscular Disorders, Translational Medicine and Genetics Honorary Consultant in Clinical Genetics Chiara Marini Bettolo Honorary Clinical Senior Lecturer and Consultant Neurologist Strand representativesSupporting activities coordinatorsAbout the teamAbout the Team – One of the great strengths of the centre is its collaborative and multidisciplinary approach, both within the team at Newcastle and with other leading experts around the world. Genetic neuromuscular disease includes some very rare conditions and it is through establishing these partnerships that the biggest strides towards improving diagnosis, care and treatment for patients can be made.Job vacancies – Opportunities to join our team will be posted hereAlumniAbout launch dayResearch centre launch dayJohn Walton – Lord Walton’s contribution to the field of muscle disease research and patient care is enormous. He has been a leading figure in the field for over 50 years and trained many of the current leaders in the neuromuscular field.Launch day programmeDownload launch day bookletJournal of Neuromuscular Diseases – launch special – This special issue documents the scientific contributions presented at the inauguration of the John Walton Muscular Dystrophy Research Centre on 24 November 2014Images from the dayPublicationsOur publications – The John Walton Muscular Dystrophy Research Centre has an excellent publication record. Our most recent publications can be found below. RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases Hanns Lochmüller – March 2018 Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea Bauché S et al – September 2016 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies Belaya K et al – July 2015 Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK Figuero-Bonaparte S et al – June 2015 Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland Bansagi B et al – June 2015 Publications pageNews We are doing a skydive to raise money for Muscular Dystrophy UK! Volker Straub, Zoe Laidler, Jessie Trueman, Chloe Geagan, John Dawson & Lindsay Murphy We are joining #TeamOrange to do a sponsored skydive in June to raise money for Muscular Dystrophy UK! Muscular Dystrophy UK is … Article published on 3 March 2023 Pioneering research in Newcastle highlighted in government plan Research into rare disease from the NIHR Newcastle BRC has been highlighted as an example of pioneering work in a new report published by the government. Photo by Luke Stackpoole on Unsplash The new Rare … Article published on 3 March 2023 Prof Kate Bushby announces retirement After 29 years at Newcastle University, Professor Katie Bushby MD FRCP has announced her retirement as Professor of Neuromuscular Genetics from the end of May. Along with Volker Straub, Katie was one of the founding … Article published on 24 May 2018 Go to our news articles page for more newsOur brochureOur brochure – Download a PDF version of our current brochure CloseClinical care – for patientsClinical Care – The John Walton Muscular Dystrophy Research Centre runs multidisciplinary paediatric and adult clinics for over 2500 NHS patients per year with a range of neuromuscular diseases throughout the North of England.Patient pathwaySpecialist care advisorsSpecialist nursesConsultants and doctorsPhysiotherapistsInvestigationsResults discussionReturn visitsAttending one of our clinicsClinical servicesClinic contact informationClinic locations CloseDiagnostic – serviceDiagnosticsDiagnostic and Advisory Service for Limb Girdle Muscular Dystrophies CloseBasic research – in our labsBasic research – The research team conducts basic research into the nature and molecular pathology of neuromuscular diseases using cutting edge genetic techniques.Antisense Oligonucleotide Therapies for Duchenne Muscular Dystrophy – Almost 25 years after the discovery of the dystrophin gene, the first generation of antisense oligonucleotides (AON) has entered clinical trials to target post-transcriptional control mechanisms and improve dystrophin expression and function.Molecular Genetics of Neuromuscular Diseases – One major focus of the research team is to identify the causative DNA changes underlying the NMD in patients both from the North of England, but also worldwide.Understanding the Function of NMD Genes – There are over 20,000 genes in the human genome. Whilst the function of many has been worked out in some detail, many others remain of unknown purpose. CloseClinical research – for new therapiesClinical researchIndustry Collaboration CloseNetworking – & collaborationsNetworks & collaborationsIndustry collaboration – We have a proven track record of success in collaboration with commercial organisations around the worldRare Disease ExpertisePublic engagement – Involving patients and the public in our work and keeping them informed about what we do is an important goal of the John Walton Muscular Dystrophy Research Centre.Current projectsCurrent projects Past projects Patient registriesMeetings & eventsMeetings & events There are no meetings planned at the moment Meetings & events archive Neuromuscular Translational Summer SchoolJuly 2018 Rare Disease DayFebruary 2018 5th International TREAT-NMD ConferenceNovember 2017 Imaging in Neuromuscular Disease 2017November 2017 Growing the drug pipeline for neuromuscular diseasesDecember 2015 Newcastle 2013October 2013 Geneva 2011November 2011 Bringing down the barriersNovember 2009 CloseContact us – & visitingContacting us & visitingInstitute of Genetic Medicine Newcastle University Centre for Life Newcastle NE1 3BZ Non-clinical Enquiries +44 (0) 191 241 8610 Clinical Secretaries +44 (0) 191 241 8757 Contact usAttending one of our clinics Centre for LifeNewcastle upon Tyne Eden Valley HospiceCarlisle Freeman HospitalNewcastle upon Tyne James Cook University HospitalMiddlesbrough Low Grange Health Care CentreMiddlesbrough Royal Victoria InfirmaryNewcastle upon Tyne Seaham Primary Care CentreSeaham, County Durham University Hospital of HartlepoolHartlepool University Hospital of North TeesStockton-on-Tees Privacy policyOur location Close. Close
Volker Straub, Zoe Laidler, Jessie Trueman, Chloe Geagan, John Dawson & Lindsay Murphy We are joining #TeamOrange to do a sponsored skydive in June to raise money for Muscular Dystrophy UK! Muscular Dystrophy UK is …
Research into rare disease from the NIHR Newcastle BRC has been highlighted as an example of pioneering work in a new report published by the government. Photo by Luke Stackpoole on Unsplash The new Rare …
After 29 years at Newcastle University, Professor Katie Bushby MD FRCP has announced her retirement as Professor of Neuromuscular Genetics from the end of May. Along with Volker Straub, Katie was one of the founding …
Introduction about NMDs / RDs their importance and what we are doing about them.
