MenuWelcome – to our centreLeadershipOur principal investigators – Professors Kate Bushby, Rita Horvath and Volker Straub lead the John Walton Muscular Dystrophy Research Centre and hold joint appointments between Newcastle University and the NHS. With over 160 publications in the last three years, their time is split between research and clinical commitments, with a focus on neuromuscular disease, and they provide leadership across the five strands of the centre. Kate Bushby Professor of Neuromuscular Genetics Consultant Clinical Geneticist Rita Horvath Professor of Neurogenetics Volker Straub Harold Macmillan Professor of Medicine Consultant in Neuromuscular Genetics and Paediatrics Strand representatives – The following colleagues represent each of the strands of activity in the centreSupporting activities coordinators – Information about the coordinators of important supporting activities can be found hereAbout 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 hereAlumni – Some of the people who have previously worked here in our centreAbout launch dayResearch centre launch day – We were delighted with the number of people who were able to join us for the celebratory launch day which represents the culmination of 50 years of excellence in muscular dystrophy research and care in Newcastle under a new identity.John 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 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 Celebrating Research – 10th Clinical Trials Open Day This year marks the 10th anniversary of Clinical Trails Open Day and so the organisers are ‘going all out’ to make it a spectacular event. The open day gives colleagues based here at the Joh … Article published on 30 April 2018 Recruitment Opportunity for Professorial Chair/Senior Lecturer in UK The John Walton Muscular Dystrophy Research Centre (JWMDRC) at Newcastle University and the Newcastle Hospitals NHS Foundation Trust is looking to recruit a Clinical Academic to join the centre focusing on genetic neuromuscular diseases. This … Article published on 28 March 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 – serviceDiagnostics – The John Walton Muscular Dystrophy Research Centre leads the National Specialised Commissioning Team (NSCT) service for rare neuromuscular disorders, and is specifically responsible, through the NHS Northern Genetics Service, for the National Limb Girdle Muscular Dystrophy Diagnostic and Advisory Service.Diagnostic 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 research – The John Walton Muscular Dystrophy Research Centre plays an active role in clinical research and runs a range of studies with the Clinical Research Facility (CRF) that involve both children and adults with muscular dystrophies. The CRF is a collaboration between Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation Trust.Industry Collaboration CloseNetworking – & collaborationsNetworks & collaborationsIndustry collaboration – We have a proven track record of success in collaboration with commercial organisations around the worldRare Disease Expertise – in recent years, we have shaped a unique reputation as a seat of ‘rare disease’ expertise.Public 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 registriesPatient registries – The team in Newcastle are experienced in the set-up and coordination of neuromuscular registries. A number of national and international registries are run from the John Walton Muscular Dystrophy Research Centre, collecting data on over 1,500 neuromuscular patients.Registries coordinated from NewcastleUK SMA RegistryUK SMA Registry – The UK SMA Patient registry is a database of genetic and clinical information (or data) about people affected by spinal muscular atrophy (SMA). Spinal Muscular Atrophy (SMA) is a rare inherited neuromuscular condition, which may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. SMA is caused by a fault in the gene called Survival Motor Neuron 1 (SMN1).UK FSHD Patient RegistryUK Facioscapulohumeral Muscular Dystrophy Registry – The UK FSHD Patient registry is a database of genetic and clinical information about people affected by FSHD1 and FSHD2 and was established in 2013. This online patient driven registry combines patient reported outcomes with professionally verified genetic information through a secure online portal. The primary aim of the registry is to facilitate and accelerate recruitment into clinical trials and research. The registry is governed by a Steering Committee of clinicians, researchers and patient organisation representatives and receives funding and support from Muscular Dystrophy UK.UK Myotonic Dystrophy RegistryUK Myotonic Dystrophy Registry – The UK Myotonic Dystrophy Patient registry is a database of genetic and clinical information about people affected by myotonic dystrophy type 1 (DM1) and type 2 (DM2) and was established in 2012. This online patient driven registry combines patient reported outcomes with professionally entered clinical and genetic information through a secure online portal. The primary aim of the registry is to facilitate and accelerate recruitment into clinical trials and research. The registry is governed by a Steering Committee of clinicians, researchers and patient organisation representatives and receives funding and support from the Muscular Dystrophy Campaign and Myotonic Dystrophy Support Group.Global FKRP RegistryGlobal FKRP Registry – The Global FKRP Registry is an international registry that collects genetic and clinical data about persons affected by conditions caused by mutations in the FKRP (Fukutin Related Protein) gene, namely Limb Girdle Muscular Dystrophy type 2I (LGMD2I), and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS).GNE Myopathy Disease Monitoring ProgramGNE Myopathy Disease Monitoring Program – GNE myopathy is also known as Hereditary Inclusion Body Myopathy (HIBM), Quadriceps-Sparing Myopathy (QSM), Distal Myopathy with Rimmed Vacuoles (DMRV), Nonaka Myopathy or IBM Type 2. It is an ultra-rare autosomal recessive distal myopathy due to mutations in the GNE gene.GNE Registry – The GNE registry is a part of GNE Myopathy Disease Monitoring Program (GNEM-DMP) and is an international patient self-reported registry. We welcome all GNE patients over 18 years old worldwide.Global registriesGlobal registries – Within the John Walton Muscular Dystrophy Research Centre is based the TREAT-NMD Alliance Secretariat whose one of the roles is to coordinate the Global Registries for DMD and SMA. Those registries bring together all of the relevant disease specific national registries, accounting for over 12,000 genetically confirmed patients.Meetings & eventsMeetings & events Neuromuscular Translational Summer SchoolNewcastle upon Tyne, UK2 July 2018 Meetings & events archive 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 Chester-le-Street HospitalChester-le-Street Cumberland Infirmary HomewoodWhitehaven 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 Sunderland Royal HospitalSunderland University Hospital of HartlepoolHartlepool University Hospital of North TeesStockton-on-Tees Privacy policyOur location Close. Close SUPPORT-IRDiRC The objective of SUPPORT-IRDiRC is to provide the organisational support to the implementation of the International Rare Disease Research Consortium (IRDiRC) in close collaboration with the European Commission, the NIH, research funding agencies from Member States and Associated Countries and from other third countries involved, as well as with relevant research projects supporting IRDiRC objectives. Project start date – October 2012 Project end date – September 2018 Funded by FP7 Coordinated by Ségolène Aymé, Paris, France /* ----------------------------------------- */ /* Content Template: Loop item in ListOfPIsForMenu - start */ /* ----------------------------------------- */ #profRole{ font-size:0.7em; line-height:1.4em; text-align:center; } /* ----------------------------------------- */ /* Content Template: Loop item in ListOfPIsForMenu - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Loop item in ListOfPublicationsForMenu - start */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Loop item in ListOfPublicationsForMenu - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Loop item in ListOfNewsArticlesMenu - start */ /* ----------------------------------------- */ .menuTextColour{ color:#AAAAAC; font-size:0.9em; } /* ----------------------------------------- */ /* Content Template: Loop item in ListOfNewsArticlesMenu - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Loop item in ListOfCurrentProjectsMenu - start */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Loop item in ListOfCurrentProjectsMenu - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Loop item in ListOfPastProjectsMenu - start */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Loop item in ListOfPastProjectsMenu - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Loop item in ListUpEventsForMenu - start */ /* ----------------------------------------- */ .currentEventItemMenu{ } .currentEventItemMenuDate{ font-size:0.8em; } .currentEventItemMenu img{ //padding-right:5px; } /* ----------------------------------------- */ /* Content Template: Loop item in ListUpEventsForMenu - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Loop item in ListPastEventsForMenu - start */ /* ----------------------------------------- */ .pastEventMenuItem{ min-height:100px; width:330px; margin-bottom:-10px; } .pastEventMenuText{ font-size:0.8em; } /* ----------------------------------------- */ /* Content Template: Loop item in ListPastEventsForMenu - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: SingleProjectTemplate - start */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: SingleProjectTemplate - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Content Template – Project Content Child Cell - start */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Content Template – Project Content Child Cell - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Content Template for Project Information Child Cell Layout – 1 - start */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Content Template for Project Information Child Cell Layout – 1 - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Content Template for Project Information Child Cell Layout – 2 - start */ /* ----------------------------------------- */ .indieProjectURL{ text-align:center; } /* ----------------------------------------- */ /* Content Template: Content Template for Project Information Child Cell Layout – 2 - end */ /* ----------------------------------------- */ /* ----------------------------------------- */ /* Content Template: Content Template for Project Information Logo and Address - start */ /* ----------------------------------------- */ .indieProjectInfo{ font-size:0.8em; text-align:center; } .indieProjectCoordInfo{ text-align:center; padding-left:30px; padding-right:30px; } /* ----------------------------------------- */ /* Content Template: Content Template for Project Information Logo and Address - end */ /* ----------------------------------------- */ Menu WelcomeClinical CareDiagnostic servicesBasic researchClinical researchNetworking Networks and CollaborationsCurrent projectsPatient registriesUpcoming meetings & events Back Contact us & visiting CookiesThis site uses cookies: Find out more.Okay, thanks
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 …
This year marks the 10th anniversary of Clinical Trails Open Day and so the organisers are ‘going all out’ to make it a spectacular event. The open day gives colleagues based here at the Joh …
The John Walton Muscular Dystrophy Research Centre (JWMDRC) at Newcastle University and the Newcastle Hospitals NHS Foundation Trust is looking to recruit a Clinical Academic to join the centre focusing on genetic neuromuscular diseases. This …
The objective of SUPPORT-IRDiRC is to provide the organisational support to the implementation of the International Rare Disease Research Consortium (IRDiRC) in close collaboration with the European Commission, the NIH, research funding agencies from Member States and Associated Countries and from other third countries involved, as well as with relevant research projects supporting IRDiRC objectives.
Ségolène Aymé, Paris, France
