Plenary Sessions

PL 1 – Muscle – Saturday, July 7

PL 2 – Neuropathy – Sunday, July 8

PL 3 – Motor Neurone – Monday, July 9

PL 4 – Neuromuscular Junction – Tuesday, July 10

 

Volker Straub
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.

Hanns Lochmüller
Freiburg University Medical Center 

PL 1.3 Genetics / Epigenetics

 

About Hanns Lochmüller

Dr. Hanns Lochmüller trained as a neurologist in Munich (Germany) and Montreal (Canada). Following his move to Newcastle University (UK) he held the chair of experimental myology at the Institute of Genetic Medicine until 2017. He now holds appointments as scientist at the Medical Center – University of Freiburg, Department of Neuropediatrics and Muscle Disorders (Germany) and as visiting scientist at the Centre for Genomic Regulation, Centre Nacional d’Anàlisi Genòmica Barcelona (Spain).

Hanns’s 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. Over the last two decades he has led research on congenital myasthenic syndromes, spanning gene discovery, disease modifying factors, and therapy development. In addition to his scientific and clinical research interests, he is internationally active in rare disease science policy and research collaborations. He chaired the Interdisciplinary Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC) and 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. He has been involved as principal investigator in several national and European-funded research projects on neuromuscular disorders, rare disease and genomics, most recently NeurOmics, RD-Connect and Solve-RD, and has led multiple academic and commercially sponsored clinical trials in neuromuscular indications including SMA, GNE myopathy and myotonic dystrophy.

Mary M. Reilly
University College London Institute of Neurology

PL 2.1 Inherited neuropathies: from genes to clinical phenotype

 

About Mary M. Reilly

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 the 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 President of the Association of British Neurologist (ABN), a past President of the British Peripheral Nerve Society (BPNS), and immediate past President of the international Peripheral Nerve Society (PNS).

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).
Dr van Doorn’s main fields of interest are neuromuscular disorders, especially the immune-mediated neuropathies Guillain-Barré syndrome (GBS) and CIDP; and Pompe disease, a metabolic muscle disease due to alpha-glucosidase deficiency. He is pursuing studies that examine the relationships between infections, immune reaction/antiganglioside antibodies, and the effect of IVIg treatment. He is involved in studies on outcome measures and prognostic modelling in GBS, CIDP and Pompe disease. Dr van Doorn has initiated, conducted several randomized controlled trials and surveys in GBS/CIDP, including the ongoing second-dose IVIg trial in GBS patients with a poor prognosis (SID-GBS). He joined the ‘Rotterdam study’, a large ongoing population study in elderly, were his research focusses on the epidemiology and risk factors of polyneuropathy.
Dr van Doorn chaired the Inflammatory Neuropathy Consortium (INC) and is president-elect of the Peripheral Nerve Society (PNS). He is co-chair of the Erasmus MC ‘Center of lysosomal and metabolic diseases’ and board member of the ‘European Pompe Consortium’ (EPOC). He is member of the International GBS Outcome study (IGOS) steering committee, medical advisory board of the GBS-CIDP Foundation International and Spierziekten Nederland. He co-organized the PNS/INC meeting 2012 in Rotterdam. Dr van Doorn is board member of several journals and has published over 300 papers in peer reviewed journals, he is co-author of the recent book ‘Neuromuscular disease, a case-based approach’.

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.

Peter Andersen
Umeå University

PL 3.1 Emerging therapies for Motor Neurone Diseases

 

About Peter Andersen

Peter Andersen is professor of neurology at the University Hospital of Umeå in Sweden. He received his MD from the University of Copenhagen in 1990 and in 1992 established the ALS research group at Umeå University Hospital in Sweden. In 1997, he defended his doctoral thesis ”Amyotrophic lateral sclerosis and CuZn-superoxide dismutase”.
Dr. Andersen’s field of interest are ALS syndromes with a genetic predisposition. Since 1993 the focus has been on delineating the subtypes of ALS at the clinical, cognitive, genetic and neuropathological-postmortem levels. His research group was the first to demonstrate the existence of adult-onset recessively inherited ALS caused by the D90A SOD1 mutation. In his doctoral work in 1993 he found that some SOD1 mutants have normal free radical dismutation activity, demonstrating for the first time that ALS is not caused by free radicals, but that the mutant SOD1 protein has gained a novel cytotoxic function. His group demonstrated that cytosolic inclusions containing misfolded SOD1 species are prevalent in motor neurons of patients not only with ALS caused by mutations in SOD1 but also exists in patients with ALS caused by mutations in 6 other genes and in patients with sporadic ALS. In the past five years his group has demonstrated that these aggregates of misfolded SOD1 when injected intraspinally in mice elicits an ALS-like disease with concomitant propagation throughout the neuraxis of misfolding of SOD1 selectively in motor neurons. There appears to exists two distinct strains of misfolded SOD1 species with different phenotypes and spreading pattern in the CNS. The findings suggest that misfolded SOD1 species acts as prions. These observations opens up for new avenues for treating ALS by blocking the synthesis of SOD1, stabilizing already produced SOD1 or increasing clearance of aggregates by chaperone induction.

Leonard van den Berg
University Medical Center Utrecht

PL 3.2 Clinical concept of ALS

 

About Leonard van den Berg

Leonard H. van den Berg is a Professor of Neurology at the University Medical Center Utrecht and director of the Netherlands ALS Center. At the UMC Utrecht outpatient clinic for patients suspected of ALS or other motor neuron, 90% of ALS patients (>300 patients/year ) in The Netherlands are diagnosed. Improved awareness of ALS through media and education resulted in a mean diagnostic delay from onset of symptoms of less than 8.5 months. ALS care has been organized through a Dutch network of ALS care providers, consisting of home care teams and 40 specialized multidisciplinary ALS teams in Rehabilitation Centres or Hospitals. He is chairman of ENCALS (European Network for the Cure of ALS), which is a Europe-wide network of >50 ALS Care and Research Centres. ENCALS fosters high standards of care and research collaborations, and holds a European ALS meeting annually. He established a research group focused on translational research into ALS to develop effective treatment for patients with ALS by delineating molecular pathways that initiate/drive motor neuron degeneration using data obtained from patients, transgenic and neuronal cell culture models. For his role in ALS care and research he has received the ‘Sheila Essey Award’ from the American Academy of Neurology and the ‘Forbes Norris Award’ from the International Alliance of ALS/MND Associations.

David Oliver
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.

Steve Burden
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.

Kinji Ohno
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.

Angela Vincent
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.

 

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