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John Walton Muscular Dystrophy Research Centre (JWMDRC), Institute of Translational and Clinical Research, Faculty of Medical Sciences
John Walton Muscular Dystrophy Research Centre
“Performing world class translational research to bring diagnosis, care and therapy to people with neuromuscular disease.”
The John Walton Muscular Dystrophy Research Centre (JWMDRC) brings together and consolidates Newcastle’s distinguished, international and world-leading record in research and care for neuromuscular diseases. The Centre is structured around four strands of activity: basic research, diagnostics and clinical care, clinical research, and strategic partnerships and networking - all strongly interlinked.
The JWMDRC is based within the Newcastle University. The Centre focusses on the development and application of genomic and translational medicine to improve the health outcomes of people living with genetic neuromuscular diseases. It runs multidisciplinary paediatric and adult clinics for over 2500 NHS patients per year with a broad range of neuromuscular diseases throughout the North of England.
The John Walton Muscular Dystrophy Research Centre runs a nationally commissioned highly specialised diagnostic and advisory service for limb-girdle muscular dystrophies (LGMDs). This service combines clinical, molecular genetics and muscle immuno-analysis expertise to the benefit of advancing diagnosis, improving standards of care and developing and implementing novel treatments for patients with muscular dystrophies.
ICGNMD Co-Director Professor Volker Straub
ICGNMD research/role description: Alongside Professors McFarland and Taylor, I am one of the three PIs within the Newcastle team providing support to the genomic projects undertaken by affiliated Clinical Fellows and on Centre Bioinformatician. I am also the Co-Director of the centre.
Relevant interests/other roles: I am a Professor of Neuromuscular Genetics and Harold Macmillan Professor of Medicine. Within Newcastle University, I am the Deputy Dean of the Institute of Translational and Clinical Research and the Director of the John Walton Muscular Dystrophy Research Centre. I have a long-standing interest in the pathogenesis of genetic muscle diseases, with research using zebrafish and mouse models. My current research also involved the application of magnetic resonance imaging, next generation sequencing and other-omics technologies for the characterization of primary neuromuscular disorders.
ICGNMD Clinical PhD Fellow:
Dr Christina Trainor
- Current research programmes:
The John Walton Muscular Dystrophy Research Centre leads or co-leads several ‑omics research projects, such as: MYO-SEQ, MYO-SEQ Advance and Solve-RD. Within the MYO-SEQ project, in collaboration with the Broad Institute of Harvard and MIT, our centre applied whole exome sequencing to a large cohort of patients with unexplained limb‐girdle weakness from 55 highly specialised neuromuscular centres in Europe and the Middle East. MYO-SEQ Advance focuses on investigating likely pathogenic variants outside the coding regions, mainly intronic and untranslated variants that may have an effect of splicing and/or regulation of the relevant genes. Solve-RD aims to ‘solve the unsolved’ rare diseases by applying ‑omics technologies beyond the exome. Within this project the John Walton Muscular Dystrophy Research Centre leads the ERN‑NMD Data Interpretation Task Force composed of geneticist and clinicians from ten NMD partners from the UK and Europe.
- How the new international centre will benefit research and clinical programmes:
The ICGNMD will strengthen transcontinental genomics research and capacity building partnership between our Centre, other centres in the UK (UCL and Cambridge) and a number of other countries across the world including India, Brazil, South Africa, Zambia and Turkey. It will help with the discovery of new disease genes, defining the genetic variants in known neuromuscular genes, understanding comparative genetic architecture in different populations and exploring disease mechanisms. It will also strengthen transcontinental clinical academic partnerships in the field of neuromuscular diseases with the aim of improving the lives and health outcomes of children and adults affected by these diseases.
- Top five publications from the past five years:
Jacobs M, James MK, Lowes LP, Alfano LN, Eagle M, Lofra RM, Moore U, Feng J, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa-Hernández I, Holsten S, Sakamoto C, Canal A, Práxedes NS, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Guglieri M, Hogrel JY, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Díaz-Manera J, Pegoraro E, Mendell JR; Jain COS Consortium, Mayhew AG, Straub V. Assessing Dysferlinopathy Patients Over Three Years With A New Motor Scale. Ann Neurol. 2021 Feb 11; PMID: 33576057
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium, Straub V. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med. 2020 June 11; 22: 1478-1488Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnússon Ó, Lek M, MacArthur D, Bushby K, Lochmüller H, Straub V. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. Orphanet J Rare Dis. 2017 Sep 6 12(1):151
Vissing J, Johnson K, Töpf A, Nafissi S, Díaz-Manera J, French VM, Schindler RF, Sarathchandra P, Løkken N, Rinné S, Freund M, Decher N, Müller T, Duno M, Krag T, Brand T, Straub V. POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. Ann Neurol. 2019 Dec 86(6):832-843
Wagner KR, De Luca A, Caizergues D, Dowling J, Goemans N, Gordish-Dressman H, Grounds MD, Kelly M, Mayhew A, McNally EM, Zoetis T, Lee J, Turner C, Wells DJ, Csimma C, Straub V. A decade of optimizing drug development for rare neuromuscular disorders through TACT. Nat Rev Drug Discov. 2020 Jan 19(1):1-2