Research Committee

The Research Committee members meet twice a year to review and discuss workshop applications. The committee evaluates the scientific value of the workshops, the urgency of the topic and the appropriateness of the participants. With their work, they ensure a high-quality workshop and advise the Executive Committee on the selection of applications for ENMC workshops.

The Chair of the ENMC Research Committee: 

Dr A. Ferreiro, Research Director

After qualifying as an MD, Ana joined the Institut of Myology in Paris (Pitié-Salpêtriere Hospital/Université Pierre Marie Curie, France) to complete a European PhD on Myology and Molecular Genetics. Since 2002, Ana has led an independent research laboratory, ‘Basic and Translational Myology’ at the Université Paris Diderot/CNRS (Paris). In parallel, she has maintained clinical activity as a Consultant Neurologist at the Reference Center for Neuromuscular Disorders (Pitié-Salpêtriere Hospital, Paris), for pediatric and adult patients with congenital-onset muscle conditions, in particular for those with atypical, difficult-to-diagnose forms.

As Research Director of ENMC, Ana Ferreiro chairs the Research Committee and supports the Executive Committee in defining and implementing ENMC’s scientific policy together with the team in Baarn.

Our current members are:

Dr Ana Buj Bello is research director at INSERM and head of the Gene-based Therapies for Congenital Myopathies team at the UMR-S 951, Genethon, France. She received her degree in Medicine and Surgery from the University of Lleida, Spain, and a PhD in Neurosciences from the University of St Andrews, UK. She also obtained a diploma in Myology from the University of Pierre et Marie Curie, France. Having done a post-doctorate at the « Institut de Génétique et Biologie Moléculaire et Cellulaire » (IGBMC), France, she joined the INSERM in 2004 and has worked at Genethon since 2009. Her research activities focus on developing AAV-based gene therapies for neuromuscular disorders, in particular congenital myopathies, with a major interest in clinical translation. Her pioneering work on gene replacement therapy for myotubular myopathy has led to the initiation of a clinical trial in patients. She is member of the MTM and CNM Patient Registry Steering Committee.

Prof. Nathalie Goemans is a paediatrician and child neurologist, with certification in rehabilitation medicine, staff member since 1987 at the University Hospitals Leuven, Belgium, currently as head of clinic within the department of Pediatrics (Child Neurology) and head of the Neuromuscular Reference Centre for Children at the University Hospitals Leuven. She is actively involved in national and international research networks, with a particular interest in the multidisciplinary aspects and the dissemination of standards of care in neuromuscular disorders and the development of international registries. Research activities involve translational and clinical research in various neuromuscular disorders, the development of new therapies for Duchenne muscular dystrophy and spinal muscular atrophies and the research and development of outcome measures to assess interventions in these diseases. She is member of the TREAT NMD Executive Committee and serves on the board of the World Muscle Society.

Prof. Edgar Gomes is Professor at the Faculty of Medicine of the University of Lisbon and group leader at the Instituto de Medicina Molecular (iMM), Lisbon, Portugal. He is a biochemist by training and performed his PhD on cell biology in Coimbra, Portugal. Thereafter, he did his post-doc at the University of Columbia, NY, USA. In 2007, at the Institute of Myology, Paris, France, Edgar set up his own research group and became a Director of Research. Since 2014, he is heading a lab at iMM, where they are interested in how the cell architecture of skeletal muscle cells works, such as they studied for central core myopathies. Mechanisms of nuclear movement during cell migration and skeletal muscle formation are being studied and what is the role for nuclear positioning in skeletal muscle formation is main topic of research. Recently he became a Professor of Histology and Developmental Biology at the Faculty of Medicine, where he works closely with Hospital Santa Maria, the main hospital in Lisbon, at the edge of diagnostics and therapeutics.

Prof. H. Jungbluth is Professor of Paediatric Neurology at King’s College London and a Consultant Paediatric Neurologist at the Evelina Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, London. He runs specialist clinics for children and adolescents affected by neuromuscular and neurological disorders and has more than 20 years of clinical experience in the neuromuscular field. His main research interest is in neurogenetics, in particular the genetics of early-onset neuromuscular and neurodevelopmental disorders. He has published more than 150 peer-reviewed papers and has authored several chapters in key neurological and neuromuscular textbooks. He is a member of various editorial boards, as well as national and international expert consortia concerned with improving the care and developing therapies for patients affected by neuromuscular disease.

Prof. Dr. med. Cornelia Kornblum is working at the Department of Neurology, University Hospital of Bonn, Germany. She heads the Section of Neuromuscular Disorders established in 2018 that includes a specialized clinical trial unit for adult patients and a Neuromuscular Laboratory, located within the Department of Neurology. Cornelia received her MD from the University Medical School of Bonn in 1999 and specialised in neurology in 2003. Thereafter, she worked as a postdoctoral fellow at the Department of Epileptology and the Life & Brain Center in Bonn, studying mitochondrial genetics. Since 2006, she has been a Senior Neurologist and Head of the Neuromuscular Group of the University Hospital of Bonn. In 2008, she qualified as a university lecturer and received the venia legendi for clinical neurology for her thesis on mitochondrial disorders. She was appointed Associate Professor of Neurology in 2014. Cornelia’s clinical interests include metabolic myopathies, mitochondrial disorders and myotonic dystrophies. Currently her research focuses on the clinical, genetic, myopathological and brain imaging characterisation of hereditary multisystemic neuromuscular diseases affecting the central nervous system. She is a member of several national and international scientific societies and spokesperson for the Center for Rare Diseases Bonn. Since 2017, she has been a member of EURO-NMD.

Dr M. Olivé did her residence in clinical neurophysiology and then trained in the clinical and pathology of muscle disorders. She joined the Institute of Neuropathology, at the Bellvitge University Hospital in Barcelona in 2001 where she is in charge of the analysis of muscle biopsies. In collaboration with the Department of Neurology she is also responsible for the clinical and electrophysiological evaluation of patients suffering from muscle disorders. Both the Institute of Neuropathology and Department of Neurology are referral centres for diagnosis of neuromuscular disorders. Her main research interest is focused on protein aggregate myopathies, sarcomeric disorders, and rare structural myopathies. Montse was vice-chair of the WMS meeting held in Granada in 2016.

Prof. T. 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). He is member of the TREAT-NMD Executive Committee and serves on the board of European Paediatric Neurology Society. His research is focused on genetics, translational research, and clinical studies of neuromuscular diseases. Thomas is leading the Karolinska’s participation in the EURO-NMD network of excellence for neuromsucular diseases.

Prof. W. Stenzel graduated magna cum laude as Medical Doctor at the Department of Neurosurgery in Frankfurt in 2002. He was appointed in 2008 for a professorship of Neuropathology and Neuroimmunology at the Department of Neuropathology Charité, Universitätsmedizin Berlin, Germany and is since then lecturer at the same department. He is head of the neuromuscular research and diagnostic unit at the department. His major research focus is on the pathology of inflammatory myopathies, immune mechanisms in muscular dystrophies, and myopathology in general. He is board certified both in clinical Neurology and Neuropathology. Besides being a member of the ENMC Research Committee since June 2016, he was Chair of the World Muscle Society meeting organising committee in 2014 and he is member of the editorial board of many scientific journals.

Prof. V. Timmerman is a biologist and Full Professor at the University of Antwerp, Belgium, and head of the Peripheral Neuropathy Research Group of the Faculty of Pharmaceutical, Biomedical and Veterinary Sciences since 2002. He won several research prizes for his pioneering work in identifying novel loci and genes for Charcot-Marie-Tooth disease (CMT) and related neuropathies. He published more than 200 peer-reviewed papers and chapters in textbooks. He has supervised a great number of postdocs, PhD students and students working in this expert area. Vincent has been the organiser of the International CMT Consortium meetings for many years and is a member of different scientific advisory and evaluation boards. His research is currently focussed at understanding the biological consequences of mutant genes associated with peripheral neuropathies, and how this knowledge can be translated towards the development of therapeutic strategies.

Dr N. Voermans has been working in the field of neuromuscular disorders for over 10 years. She received her PhD with a thesis on neuromuscular features in inherited connective tissue disorders. Her current research focuses on the adult presentations of congenital myopathies. This includes the research on the clinical and genetic spectrum of RYR1-related myopathies, the pathophysiology of muscle weakness and slowness in nemaline myopathy, and Brody disease. Her second research focus is on clinical and genetic features of facioscapulohumeral muscular dystrophy, both in childhood and adulthood. This research is fully in line with her clinical work on various myopathies in the neuromuscular clinic at the Radboudumc in Nijmegen, the Netherlands. She is medical advisor of the Dutch patient organisation for congenital and metabolic myopathies and participates in the Euromac consortium on McArdle disease. She supports the scientific training of medical students in an international neuromuscular network.