University of Glasgow, United Kingdom
Darren Monckton obtained a BSc in biochemistry from the University of Bath (1989) and a PhD in human genetics from the University of Leicester (1992) where he worked with Professor Sir Alec Jeffreys. He did postdoctoral research in Baylor College of Medicine with Tom Caskey and MD Anderson Cancer Center with Mike Siciliano, where he was the Muscular Dystrophy Association Sammy Davies Junior Neuromuscular Disease Research Fellow. In 1996 he took up a lectureship in genetics at the University of Glasgow, where he was also the recipient of a Lister Institute Research Fellowship. Currently, he is Professor of Human Genetics and teaches genetics on a range of courses and leads an active research team investigating the basis and consequences of simple sequence repeat instability in human disease. In particular, his team are defining the role of DNA repair and somatic expansion as a major driver of pathology in myotonic dystrophy and Huntington disease, and as a novel therapeutic target. He has presented more than 260 invited seminars and lectures, including the Genetics Society Balfour Lecture (1999) and the Tenovus Medal Lecture (2008), and many to patient support groups; receiving a Muscular Dystrophy UK Science Communication Award in 2012. He is a scientific advisor to the Myotonic Dystrophy Support Group (UK), the European Dystrophia Myotonica Association and the Myotonic Dystrophy Foundation (USA), a Research Vice President for Muscular Dystrophy UK and scientific advisory board member and/or consultant for several commercial entities developing novel treatments for rare diseases. His contributions have been recognised with the 2017 Muscular Dystrophy UK Scientist of the Year Award, the 2019 Huntington Disease Society of America Research Award and the Steinert Basic Science Award of the International Myotonic Dystrophy Consortium in 2024.
University Hospital Bonn, Germany
Cornelia Kornblum is an associate professor of neurology at the Center for Neurology, University Hospital Bonn. She headed the University`s Department of Neuromuscular Diseases until December 2025. Since January 2026, she has run the Clinic for Neurology at the Theodor-Wenzel-Werk in Berlin while continuing her teaching activities in Bonn. She received her Ph.D. (Promotion) 1999 from the University Medical School Bonn and specialized in neurology in 2003. From 2004 to 2005, she worked as a postdoctoral researcher at the Life & Brain Center in Bonn, where she focused on mitochondrial genetics. In 2008, she received the venia legendi in neurology for her habilitation thesis on mitochondrial diseases. In 2014, she was appointed associate professor. Cornelia’s research focuses on brain involvement in neuromuscular diseases, with a particular emphasis on mitochondrial disorders and myotonic dystrophies. She is a member of several national and international scientific societies. From 2017 to 2025, she represented the University Hospital Bonn as a healthcare provider in the European Reference Network (ERN) EURO-NMD and has since continued her work as a co-chair of the EURO-NMD mitochondrial working group. She served as a member of the ENMC Research Committee until 2026.
Yamaguchi University, Japan
Masayuki Nakamori, MD, PhD, is a Professor of Neurology at Yamaguchi University School of Medicine, Japan. His research focuses on the molecular pathogenesis and therapeutic development for repeat expansion disorders, particularly myotonic dystrophy type 1. His work includes RNA-targeting strategies such as small molecules and engineered RNA-binding proteins aimed at developing disease-modifying therapies.
University College London, United Kingdom
Dr. Vanessa Todorow is a postdoctoral researcher in the laboratory of Prof. Dr. Tedesco at University College London (UCL), where she studies neuromuscular disease using muscle organoid systems. She trained in molecular and cellular biology and developed expertise in proteomics and transcriptomics at EMBL Heidelberg/DKFZ and LMU Munich. During her PhD at the Friedrich-Baur-Institute in Munich, she investigated myotonic dystrophy with a focus on transcriptomic and alternative splicing analyses. She subsequently worked in mechanobiology at Yale University, studying how proteins within the endoplasmic reticulum experience mechanical forces. Her research centers on gene regulation in muscle and its disruption in disease.
Center for iPS, Japan
Hidetoshi Sakurai is Principal Investigator and Associate Professor at the Center for iPS Cell Research and Application (CiRA), Kyoto University. After earning a Ph.D. from Nagoya University, where he conducted stem cell research in Professor Shin-ichi Nishikawa's laboratory at the RIKEN Center for Developmental Biology, he completed postdoctoral training at Nagoya University and CiRA. Since establishing an independent research group at CiRA in 2009, Hidetoshi has led research in stem cell biology and regenerative medicine, with a focus on advancing the understanding and therapeutic potential of pluripotent stem cells.
University of Western Australia, Australia
Miranda Grounds is a Scientist/Academic with > 50 years of experience as an independent researcher with a focus on skeletal muscles, using cell biology and in vivo mouse models to investigate factors controlling myogenesis during post-natal growth, damage, and during regeneration in response to intrinsic or experimental muscle necrosis, and the maintenance of muscle mass for normal ageing (sarcopenia) and diseased (DMD & dysferlinopathy) situations.
This research extends to the Meat & Livestock Industry (improving muscle mass) and has pioneered many in vivo studies into skeletal muscle function, growth, maintenance, damage and regeneration involving stem cells, inflammation, oxidative stress, extracellular matrix and neuroconnectivity.
This research has generated ~240 publications (including 50 in last 10 years), and extends to tissue engineering, Myoblast Transfer (stem cell) Therapy, drug based therapies targeting inflammation and oxidative stress, along with new approaches to tissue imaging in vivo, using a wide range of animal models, plus developing and validating biofluid biomarkers to advance clinical translation.
Johns Hopkins University School of Medicine, United States
Lisa Christopher-Stine is a Professor of Medicine and Neurology at The Johns Hopkins University School of Medicine and Director of the Johns Hopkins Myositis Center. She is an internationally recognized expert whose work has significantly advanced the understanding and treatment of inflammatory muscle diseases.
Dr. Christopher-Stine's research contributions include the co-discovery of the anti-HMGCR autoantibody, which identified a new subtype of statin-associated immune-mediated necrotizing myopathy. This work established a diagnostic framework that has improved identification and treatment of previously misdiagnosed patients. She serves as principal investigator for the Johns Hopkins Myositis Research Registry, a cohort of over 3,000 patients that supports ongoing myositis research worldwide.
Her expertise has been recognized through multiple honors, including consistent selection as one of America's Top Doctors by Castle Connolly and The Arthritis Foundation's Medical Champion Award. She and her team also received The Myositis Association's Medical Hero Award. She has held visiting professorships in Singapore and delivered the Dunlop-Dottridge Lecture at the Canadian Rheumatology Association.
Dr. Christopher-Stine is also committed to medical education and patient-centered care. She co-chairs an international OMERACT initiative developing patient-reported outcome measures for clinical trials. Patients note her attentiveness to their overall well-being, not solely their diagnosis.
Through her leadership of the Myositis Center, her research contributions, and her clinical practice, Dr. Christopher-Stine continues to advance care for patients with myositis.
Shandong University, China
Chuanzhu Yan is Professor of the Department of Neurology and Neuromuscular Center and Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases in Qilu Hospital of Shandong University, PR of China.
Dr. Yan now serves as the president of Chinese Society of Neuromuscular Disorders, the Chairmen of Neurological Rare Diseases Board in China Alliance for Rare Diseases, the vice president of Chinese Society of Neurology and board member of AOMC. He has dedicated much of his effort in the field of neurogenetics and neuromuscular disorders specifically in metabolic myopathy and inflammatory myopathies. He has published numerous book chapter and over 150 research articles in the field of neuromuscular disorders.
Mahidol University, Thailand
Jantima Tanboon is an Associate Professor of Pathology in the Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University Thailand.
Dr. Tanboon received her medical degree from Chiang Mai University and completed her residency in pathology at Chulalongkorn University, Thailand. Her primary interest is Neuropathology and Neuromuscular Research. After joining Siriraj Hospital, she rotated to several hospitals including University of California San Francisco (UCSF), Stanford University, Massachusetts General Hospital (MGH) in the US, and at the National Center of Neurology and Psychiatry (NCNP), Japan. At NCNP, under the supervision of Dr. Satoru Noguchi and Dr. Ichizo Nishino, she has further advanced her expertise and research interests in neuromuscular disorders. She is currently a visiting scholar at NCNP with a research focus on inflammatory myopathies. Dr. Tanboon is recognized as one of a few specialists in Thailand with expertise in neuropathology and muscle pathology diagnosis.
Sorbonne University, France
Joe-Elie Salem is Professor Of Medicine and Pharmacology, Head of Pitié-Salpétrière Clinical Investigation Center and Cardio-Oncology Program chez AP-HP, Assistance Publique - Hôpitaux de Paris.
Duchenne UK, United Kingdom
Emily Reuben is the co-founder and CEO of Duchenne UK. She graduated from Oxford University with a degree in modern history, and had a successful career as a reporter and anchor for Channel 4 News and CNN International.
After her eldest son was diagnosed with Duchenne muscular dystrophy (DMD), she established the Duchenne Children’s Trust. The charity joined forces with Joining Jack and is now Duchenne UK. Since 2012 they have raised more than £35 million to accelerate the search for treatments and a cure for DMD, and have set up groundbreaking and award-winning collaborations, turning Duchenne UK into the UK’s largest funder of DMD research.
Emily is a trustee at the Association of Medical Research Charities. She was a founding member of the ABPI’s eight person Patient Advisory Council, a member of the MHRA’s first Patient Advisory Group on the Innovative Licensing and Access Pathway (ILAP), and has co-chaired the ABPI’s Patient Organisation Forum.
Emily has advocated on behalf of patients around the world; at the Food and Drug Administration (FDA), European Medicines Agency (EMA) the Medicines and Healthcare products Regulatory Agency (MHRA), National Institute for Health and Care Excellence (NICE) and Scottish Medicines Consortium (SMC).
In 2017 Emily and her co-founder Alex Johnson were awarded a Points of Light award by the Prime Minister. And in 2023, she was awarded an OBE (Officer of the Most Excellent Order of the British Empire) for her services to charity and to people with Duchenne muscular dystrophy, in His Majesty The King’s Birthday Honours list.
Johns Hopkins School of Medicine, United States
Kathryn R. Wagner received her MD and PhD in molecular neuroscience from the Johns Hopkins School of Medicine. Her PhD thesis was on the original cloning and characterization of the 87kD protein, later named dystrobrevin. Following residency training in neurology and clinical fellowships in neuromuscular and neurogenetic disorders, Kathryn was a postdoctoral fellow in molecular biology where she first described the loss of myostatin in the mdx model of DBMD and in an otherwise healthy human infant. She continued this work, elucidating the role of myostatin and related signaling molecules in muscle regeneration in her own laboratory at Hopkins and is currently Professor Emerita of Neurology and Neuroscience at the Johns Hopkins School of Medicine. She was the founding director of the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute where she cared for pediatric and adult individuals with neuromuscular disorders and conducted investigator and industry initiated clinical trials. In order to advance drug development for rare disorders, she transitioned to industry where she served as Vice President, Global Head of Neuromuscular Diseases at Roche leading late-stage programs in DMD, SMA, gMG and FSHD, resulting in multiple regulatory approvals including those for Evrysdi and Elevidys. She subsequently served as Vice President, Global Head of Translational Medicine, Neuroscience at Novartis where she directed early development of a broad portfolio and provided strategic leadership on neuromuscular acquisitions. Currently, Prof Wagner is the Chair of the Board of Trustees of TREAT-NMD and an independent advisor to nonprofits and biotechnology companies.
McGill University, Canada
Maryam Oskoui is a paediatric neurologist, epidemiologist, Distinguished Research Scholar of the Fonds de Recherche Quebec, and full Professor of Paediatrics and Neurology Neurosurgery at McGill University. She leads efforts in the evidence-based evaluation of innovative treatments to optimize outcomes for children with neuromuscular disorders. Dr Oskoui co-chairs the WMS Guidelines committee and contributes to the development of international clinical guidelines, applying rigorous evidence-based methods to ensure that research translates into real-world impact, advancing diagnosis, prognosis, and treatment for children with neurological conditions worldwide.
Sorbonne Université - Inserm , France
Gisèle Bonne’s research interest focuses on the analysis of skeletal and cardiac striated muscles in normal and pathologic conditions. After a PhD thesis on the human cytochrome C oxidase complex during development and in mitochondrial myopathies, she had post-doctoral training in genetics where she identified the first mutation in the MYBPC3 gene responsible to familial hypertrophic cardiomyopathy. Since 1996, Gisèle Bonne has a permanent position at Inserm as senior researcher and conducted her research program of the genetics and pathophysiology of Emery-Dreifuss muscular dystrophy (EDMD) and identified the first mutation of LMNA gene encoding Lamins A/C (1999). Mutations of this gene have been since linked to wide spectrum of disorders, the Laminopathies.
Dr. Bonne‘s research program has evolved with time towards genetics and pathophysiology of Laminopathies and their related disorders and to reach now the genetics, the pathophysiology and the test of therapeutic approaches of several neuromuscular disorders, as she is now co-leading a team of 15 people at the Center of Research in Myology (Paris, France). The field of laminopathies has grown over the years, and is a simulating research area. Dr Bonne’s team created 2 knock-in mouse models reproducing LMNA mutations identified in patients, models that mimics quite well some of the human disease features and thus represent unique tools to test therapeutic strategies. She has been the Chair of the French Society of Myology (SFM, 2015-2018) and WMS treasurer (2017-2025).