Newcastle University Institute Of Genetic Medicine
PL 1.1 Pathomechanisms
About Volker Straub
Volker was trained as a Paediatric Neurologist at the University of Düsseldorf and the University of Essen in Germany. After his PhD thesis on Duchenne muscular dystrophy he worked as a postdoctoral research fellow in the laboratory of Kevin Campbell at the University of Iowa. In 2003 Volker joined Newcastle University as the Harold Macmillan Professor of Medicine. He is the Deputy Director of the Institute of Genetic Medicine and the Director of the Newcastle University John Walton Muscular Dystrophy Research Centre.
One of Volker’s main interests in muscle diseases is around translational research. He was a founder of the EU FP6 funded network of excellence for genetic neuromuscular diseases, TREAT-NMD, which he coordinated together with Kate Bushby. Volker has a long-standing interest in the pathogenesis of genetic muscle diseases, with research using zebrafish and mouse models. His current research involves the application of next generation sequencing and other –omics technologies for the characterization of primary neuromuscular disorders. He has been a steering group member of several EU funded projects and has coordinated the FP7 funded EU project SCOPE-NMD. Volker also chaired the MYO-MRI COST-Action (BM1304) studying the applications of MR imaging and spectroscopy techniques in neuromuscular disease. He is involved in the development of outcome measures for clinical trial purposes and acts as the chief or principal investigator in a number of natural history and interventional trials.
|Andrew L. Mammen
National Institute of Arthritis and Musculoskeletal and Skin Diseases
PL 1.2 Inflammatory mechanisms
About Andrew L. Mammen
Dr. Andrew Mammen completed his M.D. and Ph.D. at the Johns Hopkins University School of Medicine and then finished his neurology residency and neuromuscular fellowship at the same institution. He co-founded the Johns Hopkins Myositis Center in 2007. He and his colleagues at Hopkins discovered a novel form of autoimmune myopathy associated with statin use and autoantibodies recognizing HMG-CoA reductase, the pharmacologic target of statins. In 2014, Dr. Mammen moved to the NIH, where he is an Investigator and Leader of the Muscle Disease Unit. He maintains an appointment as Adjunct Professor of Neurology and Medicine at Hopkins, where he continues to see patients at the Myositis Center.
Newcastle University Institute Of Genetic Medicine
PL 1.3 Genetics / Epigegenetics
About Hans Lochmüller
Professor Hanns Lochmüller trained as a neurologist in Munich (Germany) and Montreal (Canada). He was appointed chair of experimental myology in the neuromuscular research group at the Institute of Genetic Medicine of Newcastle University in 2007.
Hanns is current chair of the Interdisciplinary Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC) and former chair of the Executive Committee of the TREAT-NMD Alliance. He is co-founder and former coordinator of the German muscular dystrophy network (MD-NET), and former scientific coordinator of EuroBioBank, a European network of biobanks for rare disorders. His research interests are focused on the molecular genetics of the inherited myopathies and neuromuscular junction disorders and the study of animal models of these disorders as a means to understand their pathophysiology as well as to develop means to monitor disease progression and therapeutic interventions. His group’s ongoing work in these areas in cell and animal models of muscular dystrophy is concentrating on gene transfer, pharmacological interventions and cell therapy.
Within RD-Connect’s sister project Neuromics, Hanns is disease coordinator for the congenital myasthenic syndromes, and in this and several other exome sequencing projects is responsible for gene discovery and work on disease modifying factors influencing severity of phenotype.
|Mary M. Reilly
University College London Institute of Neurology
PL 2.1 Inherited neuropathies: from genes to clinical phenotype
|Pieter van Doorn
Erasmus MC University Medical Center Rotterdam
PL 2.2 Immune mediated neuropathies: an expanding field of treatable neuropathies
About Pieter van Doorn
Pieter A. van Doorn is professor of neuromuscular disorders at Erasmus MC, University Medical Center in Rotterdam, the Netherlands, where he heads the neuromuscular branch. Dr van Doorn received his MD at Erasmus University, where he was trained in neurology and clinical neurophysiology. He started his research in immune-mediated polyneuropathies at the department of immunohematology at Leiden State University in the Netherlands. In 1990, he completed his thesis on ‘Intravenous immunoglobulin in chronic inflammatory demyelinating polyneuropathy (CIDP)’ (Cum laude).
|David R. Cornblath
Johns Hopkins University Baltimore
PL 2.3 Advances in the treatment of peripheral neuropathy
About David R. Cornblath
Dr. David Cornblath received his medical degree from Case Western Reserve University. He completed his internship in medicine at University Hospitals in Cleveland, Ohio followed by a residency in neurology and a fellowship year at the Hospital of the University of Pennsylvania. He has been at Johns Hopkins since where he specializes in peripheral nerve diseases.
PL 3.1 Emerging therapies for Motor Neurone Diseases
About Albert Ludolph
Prof. Dr. Albert Ludolph graduated from the Medical School of the University of Göttingen in 1979 and received his MD in 1981. He served as Consultant Neurologist at the University of Münster 1985-7 and was appointed a Professor of Clinical Neurology at the University of Münster in 1987. He worked at the Department of Neurotoxicology at the Albert-Einstein-College of Medicine in New York from 1984-1986 as a DFG stipend. He was Visiting Associate Professor of Neurology at the Oregon Health Science University from 1990-1992. Fro 1993-1996 he got Vice Chairman of Neurology at the Charite Hospital of Humboldt University, Berlin and since 1996 he is Chair and Director of the Department of Neurology at the University of Ulm. He has a long-standing interest in toxic mechanisms of degeneration in several neurodegenerative diseases, in particular Amyotrophic Lateral Sclerosis, Huntingtons Disease and Frontotemporal Dementias. Professor Ludolph is chairing the Neuroscience Center of the University of Ulm, is the President elect of the German Neuroscience Society and the current Chair of the WFN Research Group for ALS/MND.
|Leonard van den Berg
University Medical Center Utrecht
PL 3.2 Clinical concept of ALS
University of Kent
PL 3.3 Ethical issues
About David Oliver
Professor David Oliver has recently retired from the full time position as Consultant Physician in Palliative Medicine at the Wisdom Hospice in Rochester, Kent and is an Honorary Professor at the Tizard Centre at the University of Kent.
He has lectured and published widely on neurological palliative care, particularly on the care of people with motor neurone disease. He is chair of the EAPC Taskforce on Neurology and Palliative Care and was Clinical Lead for the National End of Life Care Programme document End of Life Care in Long Term Neurological Conditions – a framework for implementation. He was the Chair for the National Institute for Health and Care Excellence Guidelines on MND, which were released in February 2016. He is a Board Member of the EAPC.
He has written widely on the palliative care and symptom control of patients neurological disease, including “Motor Neurone Disease – a family affair” and as principal editor of “Palliative Care of Amyotrophic Lateral Sclerosis – from diagnosis to bereavement” with a third edition published in 2014. He also edited “End of life care in neurological disease”, published in 2013.
Skirball Institute, NYU Medical School
PL 4.1 Physiology and structure
About Steve Burden
Dr. Burden’s laboratory has made significant contributions to our current understanding of the signaling pathways for forming and maintaining neuromuscular synapse. His experiments led to the discovery of the neural signal, Agrin, a secreted, extracellular matrix protein that is necessary to form and stabilize neuromuscular synapses. His laboratory went on to identify Lrp4 as the muscle receptor for Agrin and to discover MuSK, the kinase that associates with Lrp4 and transduces the Agrin signal to stimulate postsynaptic differentiation. Further, his laboratory showed that Lrp4 acts bi-directionally, as Lrp4 not only serves as a muscle receptor for Agrin but also signals in a retrograde manner to motor neurons to control presynaptic differentiation. These studies have led to a good understanding of the signaling events that control synapse formation and provide a basis for understanding how dysfunction of this pathway causes neuromuscular disease and insights into the design of therapies to treat these diseases.
Dr. Burden was a Sloan Foundation Fellow, a McKnight Foundation Scholar, the Thomas and Virginia Cabot Professor at MIT, a two-time Jacob Javits Neuroscience Investigator Award recipient from NIH and a Fellow of the AAAS. Dr. Burden received a B.A. in Molecular Biology and a Ph.D. in Neuroscience from the University of Wisconsin in Madison. He was a faculty member at Harvard Medical School from 1980 to 1984 and a faculty member at M.I.T from 1984 to 1995, when he joined the Skirball Institute as a Professor and Coordinator for the Molecular Neurobiology Program.
Nagoya University Graduate School of Medicine
PL 4.2 Congenital Myasthenic Syndromes – New Genes and Better Treatments / Antibodies
About Kinji Ohno
Kinji Ohno obtained his medical degree from Nagoya University School of Medicine in 1983. After five-year training in Neurology, he took a PhD course at the Department of Biochemistry of Nagoya University Graduate School of Medicine. He studied genetics and biochemistry of mitochondrial diseases from 1988 to 1993. In 1993, he moved to Professor Andrew Engel’s laboratory at Mayo Clinic, Minnesota, USA, and worked on molecular mechanisms of congenital myasthenic syndromes (CMS) up to 2004. In 2004, he had his own laboratory in Nagoya University Graduate School of Medicine. He is dissecting novel pathomechanisms of CMS, and is identifying novel molecules that are essential for formation of the neuromuscular junction. He expanded his research interest to physiology and pathology of RNA metabolisms. He is developing unique web tools to predict the splicing effect of exonic and intronic mutations, and is also identifying molecular mechanisms of physiological and pathological RNA splicing.
University of Oxford
PL 4.3 Autoimmunity
About Angela Vincent
Angela Vincent MB BS FRCPath FMedSci qualified in London, worked as a doctor for one year, but then went on to do an MSc in Biochemistry at University College and did not pursue further clinical training. She joined the laboratory of Ricardo Miledi FRS at UCL to study acetylcholine receptors in myasthenia, and then joined John Newsom-Davis (later FRS) at the Royal Free Hospital where they established a research group. The group moved to Oxford in 1988 when John was appointed to the Chair of Neurology, and she led the research group from 1998 when he retired. From 1992 until 2016 she was an Honorary Consultant in Immunology and led the Oxford Neuroimmunology Service for detection of autoantibodies in neurological diseases. Her clinical interests are in the role of auto-antibodies to ion channels and receptors in peripheral and CNS disorders, and in helping to diagnose immunotherapy-responsive conditions. Her research interests include models of neuromuscular junction and autoimmune CNS diseases, and the influence of maternal antibodies on neurodevelopment. She is now Emeritus Professor of Neuroimmunology in the Nuffield Department of Clinical Neurosciences. She was elected Fellow of the Royal Society of London in 2011.