An academic task force consisting of key clinical and scientific experts from around the world has been established to help develop the future focus and structure of TREAT-NMD. Task force members will play a key role in future activities and guide the development of the network's future strategy.
Associate Professor - Leiden University Medical Center
Dr. Annemieke Aartsma-Rus is associate professor at the Department of Human Genetics and leader of the DMD genetic therapy group. She is the scientific representative of the LUMC in the TREAT-NMD governing board and is a member of the Project Ethics Counsil.
Senior Academic Physician
Zohar Argov is a neurologist with a long-standing interest in muscle disorders. He first described the condition as Quadriceps-sparing or Inclusion body myopathy in Jewish patients which led to the identification of the causative gene. He is leading research programmes to develop better therapies for GNE myopathy (email@example.com) and collaborates with Prof stella Mitrani-Rosenbaum's HIBM basic research laboratory.
During the last decade, my experience has progressively broadened from an adult neurologist and histologist perspective to a translational research contributor. Then, as part of an international preclinical project evaluating new therapeutic components, my current work extends from animal transgenic model characterization and biomarker studies to outcome measures, natural history study and finally QoL assessment. I act as curator and co-coordinator of an international registry which enrols over 2,000 patients from 32 centres.
Assistant Professor - INSERM
Christophe Béroud (PharmD, PhD): has 22 years experience in research laboratories and is an expert in bioinformatics (LSDBs) and molecular biology (diagnostic of DMC).
Neurologist - Fondazione Telethon
Enrico Bertini MD (Neurologist): leading the Unit of Molecular Medicine, the section on Morphology, and the Neuromuscular Clinics.
Professor of Neuromuscular Genetics - Newcastle University
Kate Bushby is a clinical academic with joint appointments between Newcastle University and the NHS. She is a member of the Neuromuscular Research Group within the Institute of Genetic Medicine and plays a leading role in the National Commissioning Group (NCG) for rare neuromuscular diseases.
Pediatric Neurologist - London Health Sciences Centre
Dr Campbell practices at the Children’s Hospital-London Health Sciences Centre and at the University of Western Ontario, where he is an Associate Professor of Pediatrics, Clinical Neurology, and Epidemiology and Biostatistics. He is currently the medical director of the Pediatric Neuromuscular Clinic and the Pediatric Neurophysiology Laboratory.
Director of the NMR laboratory - Institut de Myologie
Dr Pierre Carlier is a leading specialist in magnetic resonance imaging and spectroscopy of muscle with a particular interest in its development as a quantitative outcome measure.
Honorary Director, MRC Functional Genomics Unit., Head of Department. Co-Director, Oxford Centre of Gene Function - The Medical Research Council - MRC
Kay Davies’ research concerns the understanding of muscular dystrophy, particularly Duchenne muscular dystrophy and neurodegenerative diseases such as motor neuron disease and ataxia.
Chairman Dept of Neurology and Director Neuromuscular Unit - Fundacion Favaloro Hospital Universitario
Professor Alberto Dubrovsky is a Neurologist dedicated to Neuromuscular Diseases. He is currently Chairman of the Department of Neurology and Director of Neuromuscular Disease Unit of the Neurosciences Institute at Fundacion Favaloro. He also serves as Medical Director of the Argentina Muscular Dystrophy Association since 1983. He is Professor of Neurology at the University of Buenos Aires for 23 years. Also has been designated as Full Professor of Neurosciences at the Favaloro University in 2008.
Associate Professor in Medical Genetics, Director of the section of Medical Genetics - University of Ferrara
Alesandra Ferlini is a professor in medical genetics, director of the Medical Genetics section at the University of Ferrara (Italy), and coordinator of the EU funded BIO-NMD project. Her experience is in genetics of muscular disorders, and leads both research and innovative molecular diagnosis projects. Within the context of the EU, she is member of TREAT-NMD ethical committee, of the European NeuroMuscular Centre , and partner of the NMD-CHIP EU project. She is granted by the Telethon Italy and other National funds.
Director, Neuromuscular Program - Children's Hospital of Philadelphia
Richard is a paediatric neurologist and director of the neuromuscular programme at the Children’s hospital of Philadelphia.
Professor of Pediatrics and Neurology - Ohio State University College of Medicine
Dr. Kevin Flanigan is a Professor of Neurology and Pediatrics at the Ohio State University, and a Principal Investigator at the Center for Gene Therapy at Nationwide Children's Hospital in Columbus, Ohio. He has extensive experience in the design and development of patient registries, and has served as the Director of the United Dystrophinopathy Project, an NIH-funded genotype/phenotype database and registry.
Professor of Neurology
Medical Degree from Sao Paulo University, Brazil. Residency in Clinical Neurology. PhD from Kyushu University, Japan. Fellow at the Children's National Medical Center, Washington D.C. Professor of Neurology at University City of Sao Paulo. Neurologist at Sao Paulo University.
M.D - Universite Catholique de Louvain
Nathalie Goemans is a pediatrician and child neurologist, staff member at the department of Pediatrics and Child Neurology, and Head of the Neuromuscular Reference Center for Children at the University Hospitals Leuven,. that serves as a centralized clinical centre for patients with neuromuscular disorders and provides required facilities for conducting and participating in clinical trials.
British Myology Society
Professor Michael G Hanna is a Consultant Neurologist and is also Clinical Director of the National Hospital for Neurology and Neurosurgery, Queen Square, part of UCLH NHS Foundation Trust.
He has a longstanding clinical and research interest in muscle diseases and is head of the Queen Square muscle disease clinical service. He is Director of the London-Newcastle MRC Centre for translational research in neuromuscular diseases-the central mission of the MRC Centre is to work closely with clinical and scientific colleagues across UCL and Newcastle to add value to basic science programmes and catalyse the pipeline from discovery to treatment. The centre has established new core activities to overcome gaps in translation, including a neuromuscular clinical trials centre, an animal model unit, a UK muscle cell-line biobank, an outcome measure activity which includes neuromuscular MRI and a translational research PhD programme.
Director, Research Center for Genetic Medicine & The Wicker Project for Muscular Dystrophy Research - CINRG
Eric Hoffman, PhD earned his PhD in Genetics at Johns Hopkins University and then pursued post-doctoral training with Louis Kunkel at Boston Children’s Hospital working on Duchenne muscular dystrophy gene and protein identification.
Chief Neuromuscular Diseases, Neurology Department - Hospital Sant Pau
Professor Isabel ILLA is Chief of Neuromuscular Diseases at Hospital Santa Creu i Sant Pau (HSCSP), Universitat Autònoma de Barcelona were she trained as a neurologist. After completing her PhD thesis on Myasthenia Gravis she worked as a neurologist with special interest in neuromuscular diseases at HSCSP. She was a visiting associate at the U.S. National Institutes of Health, NINDS, Neuromuscular Diseases Section from 1989 until 1992. In 2005 she was appointed Chair of Neurology at the Universitat Autònoma de Barcelona.
Professor of Neurology, Medicine, Pathology and Pediatrics - University of Rochester
Dr. Griggs is Professor of Neurology, Medicine, Pathology and Pediatrics at the University of Rochester School of Medicine and Dentistry. He was Chair of the Department of Neurology and Neurologist-in-Chief at Strong Memorial Hospital from 1986 to 2008. He also held the Edward A. and Alma Vollerstein Rykenboer Chair in Neurophysiology at the University of Rochester. He received his BA from the University of Delaware and his M.D. from the University of Pennsylvania.
Head of Department of Molecular Genetics and Diagnostics - National Institute of Environmental Health - NIEH
Dr. Veronika Karcagi, PhD is Head of Department of Molecular Genetics and Diagnostics at the National Institute of Environmental Health in Budapest. She graduated as a biologist MSc. at the Eötvös Lorand University, Budapest in 1975.
Consultant Pediatric Neurologist - University Medical Center Freiburg
Dr. Jan Kirschner is coordinator of the TREAT-NMD Clinical Trial Coordination Centre (CTCC) based in Freiburg, Germany. Jan has been joint coordinator of the German network for neuromuscular disorders MD-NET (www.md-net.org) since 2008. He has been involved in planning and conducting several multicentre clinical trials. He was responsible for the coordination of a large multi-centre, placebo-controlled MD-NET trial in Duchenne muscular dystrophy. With the CTCC team in Freiburg Jan has established the Care and Trial Site Registry (CTSR) containing feasibility information about neuromuscular centres worldwide.
Director, Neuropediatrics and Muscular Disorders - University Medical Center Freiburg
Prof. Rudolf Korinthenberg, MD is head of the Department of Neuropediatrics and Muscular Disorders at Children’s Hospital, University Hospital Freiburg. He received his pediatric and neuropediatric training at University Hospital Münster/Westfalia and holds his actual position since 1990.
University Professor and Hospital Practitioner in Genetics - INSERM
Nicolas's activity is mainly focused on the genetics and cell biology of neuromuscular disorders (NMDs). At the diagnosis level, in the last 12 years, his laboratory has set-up specific protocols towards exploring most genes involved in peripheral neuropathies (CMTs) and LGMDs together with the exploration of numerous other NMDs (DMD/BMD, FSH, IBM/GNE) and laminopathies.
Professor of Experimental Myology - Newcastle University
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. He was elected Chair of the TREAT-NMD Alliance Executive Committee in April 2012.
Professor of Medical Epigenetics at the Department of Human Genetics - Leiden University Medical Center
Prof. Dr. Silvère van der Maarel is Professor of Medical Epigenetics and head of the Department of Human Genetics of the Leiden University Medical Center. His research focus is on the (epigenetic) disease mechanisms underlying facioscapulohumeral muscular dystrophy (FSHD). Other research themes include oculopharyngeal muscular dystrophy (OPMD) and the limb girdle muscular dystrophies (LGMD). By means of intracellularly expressed antibody domains he aims to uncover disease mechanisms in muscular dystrophy.
Professor of Pediatric Neurology - Università Cattolica del Sacro Cuore
Eugenio Mercuri Md PhD (Associate Professor in Pediatric Neurology): areas of expertise: congenital muscular dystrophy, outcome measures and assessment tools in neuromuscular disorders.
Director, Center for Gene Therapy & Professor of Pediatrics, Neurology & Pathology - Nationwide Children's Hospital
Jerry is the Director of the Centre for Gene Therapy and a Professor of Pediatrics, Neurology, and Pathology with extensive experience in translational neuromuscular disease research including clinical trials. He completed his residency in Neurology at the Neurological Institute at Columbia University, and trained in neuromuscular disease at the Medical Branch of Neurology at NIH.
Professor of Human Genetics - University of Würzburg
Clemens Müller-Reible is Professor of Human Genetics at the University of Wuerzburg. He trained as a molecular geneticist and has been director of the DNA diagnostic laboratory since 1985 with a focus on neuromuscular and coagulation disorders.
Director of The Dubowitz Neuromuscular Centre - University College London
Francesco Muntoni (Professor in Pediatric Neurology, FRCPCH, FMedSci): Director of the Unit with oversight of both clinical and research activities.
Director, Department of Neuromuscular Research - National Institute of Neuroscience - National Center of Neurology and Psychiatry
After having 5 years of clinical neurology training, Dr. Nishino started muscle disease research from 1994 under the tutelage of Dr. Ikuya Nonaka, who remained a steadfast source of inspiration. Later, his postdoctoral research for two years at Columbia University solidified his yearning to focus on research. In 2001, he was appointed directorship of the current Department of Neuromuscular Research and since then, he has been directing his team on the research to elucidate the pathomechanism and develop the therapy for hereditary muscle diseases, including DMRV/hIBM and various muscular dystrophies.
Co-Chair, Australasian Neuromuscular Network - ANN; Douglas Burrows Professor of Paediatrics and Child Health; Head, Institute for Neuroscience and Muscle Research - University of Sydney
Professor Kathryn North is the Douglas Burrows Professor of Paediatrics, Faculty of Medicine, University of Sydney and Head of the Institute for Neuroscience for Muscle Research (INMR) based at The Children's Hospital at Westmead, Sydney, Australia. She is a joint Chair of the Australasian Neuromuscular Network which now has over 270 members – clinicians and researchers in the neuromuscular field.
The Rehabilitation Centre for Neuromuscular Diseases
Jes is a specialist in neuromuscular rehabilitation and also a volunteer in Muskelsvindfonden, the Danish patient organization for NMD. Additionally Jes is Chairman of Muskelsvindfonden's 1) scientific committee, 2) ethical committee and 3) international relations committee.
He represents Muskelsvindfonden in the ENMC where he has just been elected Chairman of the Executive Committee.
Jes works as Chief Medical Officer and Director of the Danish National Rehabilitation Centre for Neuromuscular Diseases and is an associated partner in CARE-NMD which is a DMD project under TREAT-NMD.
Consultant Neurologist - UCL Institute of Neurology
Dr Mary M Reilly is Consultant Neurologist at the National Hospital for Neurology and Neurosurgery in London with a clinical and research interest in peripheral nerve disorders especially inherited neuropathies.
Consultant Neurologist - Kings College London
Michael Rose (PhD, FRCP) : Editor Cochrane Neuromuscular Disease Group. More than 50 original articles in journals. Systematic review writer and outcome measurement expert.
Professor of Neurobiology - Biozentrum / University of Basel
Dr. Markus Rüegg is Professor for Neurobiology at the Biozentrum, University of Basel, Switzerland. He studied Biochemistry and Neurobiology in Zurich and Stanford and was co-founder and member of the management of MyoContract, now called Santhera Pharmaceuticals, a biotech company that dedicated to develop therapies for neuromuscular diseases.
Dr. Rüegg is an internationally recognized expert in neuromuscular research and has published numerous scientific papers in the field of neuromuscular research. In recent years, his work has also been devoted to the study of therapeutic interventions in mouse models for congenital muscular dystrophy. Dr. Rüegg is also partner of the network TREAT-NMD.
Professor of Neurology and Senior Consultant - Friedrich-Baur Institut, Ludwig-Maximilians University Munich
Professor Benedikt Schoser is senior consultant at the Friedrich-Baur Institute, Dept. of Neurology at the Ludwig-Maximilians-University of Munich, Germany. He is coordinator of the diagnostic working group within the German MD-NET and member of the German reference group for neuromuscular disorders.
Associate Professor, Astrid Lindgrens Barnsjukhus - Karolinska Institute
Thomas Sejersen holds positions as Professor in Neuropediatrics at the Department of Women's and Children's Health of Karolinska Institute and consultant paediatrician at the Astrid Lindgrens Barnsjukhus (Stockholm, Sweden).
Michael E. Shy, MD, is Director of the Charcot-Marie-Tooth (CMT) Clinic and Codirector of the Neuromuscular Program at Wayne State University, Detroit, MI. He has published extensively on inherited disorders of the peripheral nervous system. Dr. Shy was the chief organizer of the International Charcot-Marie-Tooth Consortium held in Snowbird Utah in 2007.
Professor of Neuromuscular Genetics - Newcastle University
Professor Volker Straub was founding joint co-ordinator of TREAT-NMD, and is an executive board member of the World Muscle Society and R&D Director of the North Tees and Hartlepool NHS Foundation Trust.
Professor and Chair of the Department of Physiology at Perelman School of Medicine of the University of Pennsylvania
H. Lee Sweeney, Ph.D., is the William Maul Measey Professor and Chair of the Department of Physiology at Perelman School of Medicine of the University of Pennsylvania. Dr. Sweeney earned both a master's degree in physiology and a doctorate in physiology and biophysics from Harvard University.
Associate Professor, Neurology and Pediatrics Director, Pediatric Motor Disorders Research Program - University of Utah
Dr. Kathy Swoboda received subspeciality training in neurology, genetics and neurophysiology at Harvard University and affiliated programs. She currently directs the Pediatric Motor Disorders Research Program at the University of Utah School of Medicine, Salt Lake City, USA, where she is an associate professor in the Departments of Neurology and Pediatrics.
Director general of Translational Medical Center
Shin’ichi Takeda is currently the Director of Translational Medical Center (2008-) and also the Director of Department Molecular Therapy, National Institute of Neuroscience (2000-) in the National Center of Neurology and Psychiatry. He is also a guest Professor in the Tokyo Medical and Dental University and in Tokushima University.
University of Rochester
Spanish SMA Registry - Hospital Sant Pau
Born in La Plata Argentina, Eduardo is a specialist in Pediatrics and Medical Genetics also he is the Principal Investigator of the U-705 CIBERER. He is devoted to diagnosis and research in SMA at the Hospital of Sant Pau of Barcelona, a reference Center for SMA diagnosis from all over Spain.
Professor of Paediatrics and Neurology - Hacettepe University
Professor Haluk Topaloglu has held the position of professor of paediatrics and neurology at Hacettepe University School of Medicine in Ankara, Turkey since 1996. After completing his residency in paediatrics at Hacettepe University Children’s Hospital in 1982, he completed a fellowship in child neurology at the University of Calgary Department of Paediatrics in Alberta, Canada in 1985. He then held the Christine Saunders Memorial Fellowship in Neuromuscular Disorders at the Royal Postgraduate Medical School of Hammersmith Hospital, Department of Paediatrics and Neonatal Medicine in London, England, in 1995.
University of Messina
University of Tampere
Consultant, Hendaye / Head, Summer School of Myology, Paris - Hôpital Marin de Hendaye
Dr Jon Andoni Urtizberea is head of the internationally renowned Paris Summer School of Myology and a consultant at the neuromuscular reference centre at Hendaye Hospital in the French Basque region.
Professor of Neurology - Universite Catholique de Louvain
Peter Van den Bergh is a neurologist, who is director of the Neuromuscular Reference Centre , of the EMG laboratory, and of the neuromuscular pathology laboratory, located at the Cliniques Universitaires St. Luc in Brussels.
University of Copenhagen
Medical and Scientific Director - Institut de Myologie
Thomas currently holds the positions of Professor of Pediatrics (Professeurs des Universités –Praticien Hospitalier), Université Pierre et Marie Curie Paris VI, Scientific and Medical Director, Institut de Myologie, Groupe Hospitalier de la Pitié-Salpêtrière, Paris and Director, Mixed Research Unit UMR_S 974 UPMC-INSERM-CNRS-AIM.
Consultant in Medical Genetics, Principal Investigator, University Teacher - Helsingin yliopisto - University of Helsinki
Carina Wallgren-Pettersson, M.D., Co-Convenor of the ENMC International Consortium on Nemaline Myopathy, Principal Investigator and Teacher at the Department of Medical Genetics, University of Helsinki and the Folkhälsan Research Centre, Head and Consultant in Medical Genetics at the Folkhälsan Department of Medical Genetics, organiser of numerous international workshops on myotubular myopathy and nemaline myopathy as well as on other muscle disorders.
Associate Professor of Neurology - Friedrich-Baur Institut, Ludwig-Maximilians University Munich
Maggie Walter is Associate Professor of Neurology at the Ludwig-Maximilians-University of Munich.
Head of Applied Vectorology and Innovation - Généthon
Otto-Wilhelm Merten has a degree in biotechnology. He has been working at Généthon since 1997 where he was in charge of the bioprocess development department for development of large scale manufacturing processes of viral vectors. Today he directs the group of applied vectorology and innovation.
Head of Neuromuscular Section, Department of Neurology - Leiden University Medical Center
Jan Verschuuren is a neurologist and professor of Neuromuscular Disease at the LUMC. The main research topics of his group are Duchenne and Becker muscular dystrophy, myasthenia gravis and related disorders and inclusion body myositis. He is the clinical representative for the LUMC in TREAT-NMD, and president of the Dutch Neuromuscular Centre (www.ISNO.nl). Jan is chair of the TREAT-NMD Global Database Oversight Committee (TGDOC).
Neurologist, Professor of Neuromuscular Disorders - Amsterdam Medical Centre
Marianne has been the leader of the neuromuscular group at the Academic Medical Centre in Amsterdam in the Netherlands for more than 20 years. During this time her group has contributed to research on muscular dystrophies, myositis, motor neuron diseases and hereditary neuropathies.
Her areas of interest include myositis, hereditary neuropathies, motor neuron disease, post polio syndrome