• Day 1

    10 July 2020

  • Day 2

    11 July 2020

  • Day 3

    12 July 2020

  • Day 4

    13 July 2020

  • Day 5

    14 July 2020

  • 1.1 Genetic Therapies
    8:55 AM - 9:30 AM
    Speaker: Dr Kevin Flanigan
    Director, Center For Gene Therapy - Nationwide Children's Hospital
    Biography
    Dr. Kevin Flanigan is the Director of The Center for Gene Therapy at Nationwide Children’s Hospital in Columbus, Ohio, where he holds the Robert F. & Edgar T. Wolfe Foundation Endowed Chair in Neuromuscular Research. He is also the director of the NCH Neuromuscular Program, and is the director of the Nationwide Children’s NIAMS P50-funded Center for Research Translation (CORT) in Muscular Dystrophy Therapeutic Development. He trained in Neurology & Neuromuscular Medicine (residency & fellowship) at Johns Hopkins University, pursued a post-doctoral fellowship in Human Molecular Biology and Genetics at the University of Utah, and currently holds appointments as Professor of Pediatrics and Neurology at the Ohio State University. His research focuses on genotype/phenotype correlations in the muscular dystrophies and related disorders, with a goal of identifying new mutations and understanding molecular mechanisms that lead to amelioration of symptoms in order to identify new therapeutic pathways. His laboratory works primarily on AAV-based approaches to gene therapy, including viral-vector based exon skipping and gene replacement.

    1.2 Inflammatory Autoimmune Myopathies
    9:30 AM - 10:05 AM
    Speaker: Prof Olivier Benveniste
    Head of Internal Medicine Department, Sorbonne Université & Aphp
    Biography
    Olivier Benveniste has the great opportunity to control all the steps of the translational medicine process, from the immediate identification of myositis patients during their clinics or their hospitalization in his national reference centre for rare diseases, the in depth characterization of the patient’ phenotype in a standardized database, their sampling and bio banking (muscle, PBMC, sera), fundamental researches from this biobank (in depth immunoprofiling of PBMC by CyTOF analyses, effect on muscle of myositis specific auto-antibodies, effect on muscle of type 1 interferons, research of new biomarkers…), the definition of the best outcome measures for clinical trials, the physiopathological “bench to the bedside” studies, the development of clinical academic and/or industrial clinical trials, as for example, the rapami trial testing rapamycin (sirolimus) against placebo in inclusion body myositis.

    1.3 Metabolic Therapies
    10:05 AM - 10:40 AM
    Speaker: Prof John Vissing
    Director, Cmrc Rigshospitalet, University Of Copenhagen
    Biography
    John Vissing is professor of Neurology at the University of Copenhagen, Denmark, and the Director of the Copenhagen Neuromuscular Center at the National Hospital, Rigshospitalet, in Copenhagen. He obtained his MD in 1986. Following graduation from medical school, he was a research fellow at University of Copenhagen and UT, Southwestern Medical Center in Dallas, USA. His research focuses on hereditary muscle diseases. Main research interests are treatment and pathophysiology of metabolic myopathies, discovery of new neuromuscular diseases, myasthenia gravis, rehabilitation of muscle disease including exercise training, MR imaging of muscle, defining outcome measures for natural history and trials and unraveling genotype-phenotype relations in muscle disease.

  • 2.1 Dysimmune Nodo-Paranodopathies
    8:55 AM - 9:30 AM
    Speaker: Dr Luis Querol
    Neurologist, Hospital De La Santa Creu I Sant Pau
    Biography
    Luis Querol (Valencia, 1980) graduated in Medicine at the University of Oviedo. He completed his residency in Neurology at the Santa Creu i Sant Pau Hospital in Barcelona. In 2009 he was awarded a Rio-Hortega grant in Neuroimmunology in the group of Prof. Isabel Illa where he developed his doctoral thesis on the role of autoantibodies in immune-mediated neuropathies. During his last year of contract Rio Hortega, in 2012, he worked as an associate researcher in the group of Dr. Kevin O'Connor, Department of Neurology, Yale University (USA), where he developed projects related to autoantibodies in multiple sclerosis and myasthenia gravis. Directed by Prof. Illa, he completed his PhD in Medicine at the Universidad Autónoma de Barcelona in 2013 thanks tostudies that identified clinically useful antibodies in autoimmune neuropathies. In particular, these studies describe anti-contactin antibodies in a specific subgroup of patients with CIDP, in what is the first clinically useful marker detected in CIDP. On returning from the United States, he continued to work in the Neuromuscular Diseases Unit of the Santa Creu i Sant Pau Hospital, where he combined clinical care, with special interest in autoimmune pathology of the peripheral nervous system, with laboratory and translational research in the field of autoantibodies and immune-mediated neuropathies. He is currently appointed principal investigator for the Autoimmune Neurology Program of the ERN-NMD Neuromuscular Sant Pau, including the coordination of the Multiple Sclerosis Unit. Luis Querol received the Best Young Clinical Researcher 2013 Award from CIBERNED, the PK Thomas Award for best presentation in the field of neuropathies of the European Federation of Neurological Societies in 2014, the Grifols Institute's SPIN Award (2016), the Oscar award of the AQuAS agency of Catalonia (2017) and 2019 Award of the Spanish Society of Neurology in Neuromuscular Diseases, all of them for his work with autoantibodies in CIDP.

    2.3 Charcot-Marie-Tooth and Related Neuropathies
    10:05 AM - 10:40 AM
    Speaker: Prof Mary Reilly
    Professor Of Clinical Neurology, Ucl Queen Square Institute Of Neurology
    Biography
    Professor Mary M. Reilly graduated from University College Dublin in 1986, received her MD in 1996, FRCP in 2002 and her FRCPI in 2003. She was appointed a consultant neurologist at the National Hospital for Neurology and Neurosurgery, Queen Square in 1998 and a Professor of Clinical Neurology at UCL in 2010. She leads the peripheral nerve clinical service in the National Hospital for Neurology and Neurosurgery, leads a research group in the MRC centre for Neuromuscular Diseases in UCL Queen Square Institute of Neurology (ION) and is head of the Division of Clinical Neurology in ION. She has a longstanding interest in the clinical management and research in the inherited peripheral neuropathies and runs a research program encompassing gene identification, pathogenetic studies, natural history studies, development of outcome measures and conducting clinical trials in inherited neuropathies. Professor Reilly is a co-director of both the UCL MRC Centre for Neuromuscular Diseases and the NIH Inherited Neuropathy Consortium. She is the immediate Past President of the Association of British Neurologist (ABN), a past President of the British Peripheral Nerve Society (BPNS), and a past President of the international Peripheral Nerve Society (PNS).

  • 3.1 Congenital Myasthenic Syndromes
    8:55 AM - 9:30 AM
    Speaker: Prof David Beeson
    Senior Research Fellow, University Of Oxford
    Biography
    David Beeson graduated from Magdalene College, Cambridge, where he specialised in Genetics. On leaving Cambridge, he did his PhD with Professor Eric Barnard at Imperial College, London, focusing on the first cloning of muscle acetylcholine receptors. In 1988 he moved with the group of John Newsom-Davis and Angela Vincent to the Weatherall Institute of Molecular Medicine, at the University of Oxford, to work on disorders of neuromuscular transmission. He was made Professor of Neuroscience in 2004, and Fellow of the Academy of Medical Sciences in 2018. In early studies he was the first to clone many of the genes encoding key proteins at the human neuromuscular junction, and more recently his research has focused on identifying and understanding the genes and molecular mechanisms that underlie congenital myasthenic syndromes. The research has involved close clinical collaborations and the success of the work enables the National Commissioning Group of the NHS to make Oxford the National Centre for a Diagnostic and Advisory Service for these disorders. https://www.imm.ox.ac.uk/david-beeson-3 https://www.ndcn.ox.ac.uk/team/david-beeson https://www.neuroscience.ox.ac.uk/research-directory/david-beeson

    3.3 Thymectomy
    10:05 AM - 10:40 AM
    Speaker: Dr Gil Wolfe
    Professor And Chairman, Univ. At Buffalo/suny
    Biography
    Gil I. Wolfe, MD, is Professor and Chairman of the Dept. of Neurology at University at Buffalo Jacobs School of Medicine and Biomedical Sciences, SUNY, where he holds the Irvin and Rosemary Smith Chair. He attended medical school at University of Texas Southwestern Medical School and trained as a neurology resident and neuromuscular/electromyography fellow at the University of Pennsylvania Medical Center. He is board certified in neurology, neuromuscular medicine and in clinical neurophysiology. His clinical activity and academic investigation focus on neuromuscular disorders, particularly on myasthenia gravis and peripheral neuropathies. He has authored or co-authored over 125 papers and 25 chapters on neuromuscular disorders. He is a Fellow of the American Neurological Association and American Academy of Neurology.

  • 4.3 Drug Treatment of SMA
    10:05 AM - 10:40 AM
    Speaker: Speaker
    Dr Richard Finkel
    Director, Translational Neuroscience Program, St. Jude Children's Research Hospital
    Biography
    Richard Finkel, MD is Director of a new Translational Neuroscience Program at the St. Jude Children's Research Hospital in Memphis, Tennessee, USA. Dr. Finkel is a Pediatric Neurologist who focuses on childhood neuromuscular disorders, especially spinal muscular atrophy, Duchenne muscular dystrophy and the inherited neuropathies. Recent research has focused on the development of treatments for SMA and will be the topic of this presentation.