Communications

Riyad El - Khoury
American University of Beirut Medical Center , Beirut, Lebanon

Dr Riyad El-Khoury is an Assistant Professor - Neuromuscular Pathology Scientist - in the Pathology and Laboratory Medicine department at the American University of Beirut Medical Center with a joint appointment in the Neurology department. He is the Head of Neuromuscular Pathology Diagnostic Laboratory.

Teresinha Evangelista
Association Institut de Myologie, Paris, France

Dr Teresinha Evangelista is a Board-certified neurologist and neuropathologist with long standing clinical and research expertise in neuromuscular disorders. Dr Teresinha Evangelista was the president of the Portuguese Society for the Study of Neuromuscular Diseases from 2009 to 2013. In 2018, she became the coordinator of the European Reference Network for rare neuromuscular diseases EURO-NMD. In 2018, she joined the « Unité de Morphologie Neuromusculaire; Institut de Myologie - Sorbonne Université, GHU Pitié-Salpêtrière ».

Dimah Saade
NIH, NINDS, Bethesda, United States

Dr. Dimah Saade is a pediatric neuromuscular neurologist. She works at the National Institutes of Health in the Neuromuscular and Neurogenetic Disorders of Childhood Section.

Beril Talim
Hacettepe University , Ankara, Turkey

Dr Beril Talim is a pediatrician with special interest in neuromuscular disorders and expertise in muscle pathology. She works in Hacettepe University, Ankara. She is the editor of “Case Report” and “Picture of the Month” sections of “Neuromuscular Disorders”.

Hernan Gonorazky
PGRCL Sick kids, Toronto, Canada

Dr. Hernan Gonorazky is a staff neurologist at the Hospital for Sick Children since 2019. He is the neuromuscular fellowship program director of that institution. He currently is the co-director of the Spinal muscular Atrophy program at Sickkids and has dedicated much of his effort to spread the education around neuromuscular disorders.

Maria Soledad Monges
HOSPITAL J.P. GARRAHAN, BUENOS AIRES, Argentina

Dr. Soledad Monges is a pediatrician specializing in Child Neurology. Since 2006 she is a staff doctor of the Neurology Service of the Pediatric Hospital “Prof. Dr. Juan P. Garrahan ”and as of 2020 she is the head of the service's clinics, with partial dedication to the care of patients with neuromuscular disease. Since 2008 he has coordinated a care, teaching and research program for patients with neuromuscular diseases. Among her teaching activities, the following stand out: deputy director of the pediatric neurology specialist career - Hospital Garrahan academic unit, awarded by the UBA board of directors and director of the scholarship for the training of various pediatric doctors in the interdisciplinary management of patients with Neuromuscular Diseases. at the Garrahan Hospital. Additionally, she has participated as coordinator in multiple workshops and conferences aimed at different aspects of the diagnosis, management and treatment of patients with muscle diseases. She has 30 published works, with international collaborators, as well as more than 50 research works presented in poster form and publications in the framework of the most important congresses of Child Neurology, national and international; many of which have been awarded. Dr. Monges also stands out as principal investigator in research work related to diagnosis, treatment and natural evolution of pathologies such as Duchenne Muscular Dystrophy, Spinal Atrophy and Guillan Barré Syndrome.

Maryam Oskoui
McGill Unversity, Montreal, Canada

Attending Staff Pediatric Neurologist, Montreal Children's Hospital; Medicine, Pediatrics, Division of Pediatric Neurology; Director, Division of Pediatric Neurology, Montreal Children’s Hospital.

Susana Quijano-Roy
Hôpital Raymond Poincaré, Garches, France

Susana Quijano-Roy is a Child Neurologist at the Department of Paediatric Neurology & ICU at Raymond Poincaré Hospital in Garches, France. She is Full Professor of Paediatric Neurology at the University of Versailles-Saint-Quentin-en-Yvelines (UVSQ) in Versailles and directs the Garches Neuromuscular Reference Centre since 2016. Pr. Quijano-Roy received her MD in Madrid, Spain in 1992, where she subsequently specialized in Child Neurology in 1997. She then moved to the Institute of Myology in Paris to undertake an international specialization in neuromuscular disorders, where she was awarded a Diploma of Myology in 1999. Then, in 2000, she completed a fellowship in electromyography (EMG) and neuromuscular medicine at Harvard and Tufts University, Boston, under the tutelage of Professor Basil Darras of the Boston Children’s Hospital. She returned to France in 2001 to join the Department of Paediatric Neurology at Raymond Poincaré Hospital in Garches. Here she developed the French Clinical Research Network on congenital muscular dystrophies (CMDs), for which she was awarded a European PhD cum laude in 2004. She has chaired various international expert groups on infantile neuromuscular disorders at the European Neuromuscular Center (ENMC) and within the COST-Action programs (myoimaging BM1304 https://myo-mri.eu/ from 2013 to 2017). She was appointed Full Professor of Paediatric Neurology at UVSQ in 2016, and is currently Head of the Paediatric Neuromuscular Unit at Raymond Poincaré Hospital. Since 2017, she coordinates the Garches Neuromuscular Reference Centre consortium for the Euro-NMD ERN (European Reference Network on Rare Neuromuscular Diseases). Professor Quijano-Roy’s clinical interests include early-onset neuromuscular disorders, such as CMDs, spinal muscular atrophy (SMA), arthrogrypotic and congenital myasthenic syndromes. She has multiple publications in phenotype–genotype correlations, description of new genes, clinical management including spinal, respiratory and motor outcome measures, paediatric electromyography, and muscle imaging. Her current research focuses on new therapies and registries, in particular for SMA, CMDs, and myopathy associated with thymidine kinase 2 mitochondrial DNA depletion syndrome. She is also actively investigating the use of whole-body imaging for diagnosis and follow-up of hereditary myopathies, including metabolic myopathies.

Andoni J. Urtizberea
, Montlignon, France

J. Andoni URTIZBEREA, (MD, MSc), aged 62, is a French physician trained in Paris University (1983-1987) and certified both in paediatrics and PMR (physical medicine and rehabilitation). After graduating in parallel from the Institut d’Etudes Politiques de Paris in 1987, he served many years as Medical Director of the AFM-Telethon and then as General Delegate of the Institut de Myologie of Paris (1993-2000). As Scientific Director of the European Neuromuscular Center in the Netherlands and together with AFM’s support (ENMC, 1999-2005), he contributed to the establishment of many worldwide networks in myology, an emerging discipline dedicated to muscle and related disorders (Duchenne muscular dystrophy, spinal muscular atrophy, Limb Girdle Muscular Dystrophies among many others). He served until December 2019 as a part-time clinical myologist in Hendaye, France (APHP) and as deputy coordinator of the French Neuromuscular Network (FILNEMUS) in Marseilles. Over the past twenty years, he headed various worldwide educational events dedicated to myology (in France, Russia, Latin America and, more recently in the Middle-East). He is a regular visiting professor in various countries and a consultant for many pharma involved in the field. Ideally located at the intersection of industry, patient advocacy groups and academia, his main objective is to raise more awareness about these rare conditions notably in emerging countries and more specifically in the context of novel cutting-edge therapies. Dr. Urtizberea knows quite well the Middle-East, the Indian sub-continent, Russia and Latin America. More recently (2016), and together with Prof. André Megarbané (Beirut, Lebanon), he co-founded ‘Maladies Orphelines Sans Frontières’ (MOSF), an NGO dedicated to humanitarian relief in the field of rare diseases.

Aravindhan Veerapandiyan
University of Arkansas for Medical Sciences, Little Rock, AR, United States

Aravindhan Veerapandiyan, MD is a Child Neurologist and Assistant Professor with specialized interest and training in neuromuscular disorders in children. He is the Director of the Comprehensive Neuromuscular Program and Co-Director of the Muscular Dystrophy Association Care Center at Arkansas Children’s Hospital / University of Arkansas for Medical Sciences. Dr. Veerapandiyan earned his medical degree from the K.A.P. Vishwanatham Government Medical College in India. He completed a residency in Child Neurology at Rutgers University – New Jersey Medical School in Newark, New Jersey and a fellowship in Neuromuscular Medicine at University of Rochester – Strong Memorial Hospital in Rochester, New York.

Annemieke Aartsma-Rus
Leiden University Medical Center, Leiden, Netherlands

Annemieke Aartsma-Rus is a professor of translational genetics at the Leiden University Medical Center. She has been involved in setting up guidelines for the use of Duchenne muscular dystrophy mouse models in association with TREAT-NMD.

Crystal Proud
Children's Hospital of The King's Daughters, Norfolk, United States

Crystal M. Proud, MD is director of the Neuromuscular Clinic and Spinal Muscular Atrophy Center at Children’s Hospital of The King’s Daughters in Norfolk, Virginia. She received her subspecialty training at Stanford University and is board certified in Pediatrics, Neurology with Special Qualifications in Child Neurology, and Neuromuscular Medicine.

Vahid M.Harandi
Lund University, Lund, Sweden

My name is Vahid M. Harandi and my background lies in Medical Sciences where I obtained a PhD from Umeå University investigating muscle pathophysiology of Amyotrophic Lateral Sclerosis (ALS). Currently I am a Postdoctoral researcher at Lund University (Sweden) working to understand the pathogenesis of laminin alpha2 chain-deficient muscular dystrophy (MDC1A) and to develop pharmacological treatment for this deteriorating disorder.

Florencia Giliberto
UBA INIGEM, CONICET-UBA, Buenos Aires, Argentina

Larissa Goli
University of Oxford, Oxford, United Kingdom

I trained in pharmacy and genetics in Paris (France) where I specialised in the delivery of oligonucleotide therapies across the blood-brain barrier. I am currently in the third year of my DPhil in Prof. Matthew Wood's group (University of Oxford, UK), where I investigate potential combinatorial therapies in spinal muscular atrophy.

Rasha El Sherif
Myo-Care National Foundation, Cairo, Egypt

I’m consultant of neuromuscular disorders interested in studying patterns of LGMD patients in the region. I worked as a fellow researcher in NCNP in Tokyo, and completed my Doctorate degree thesis on the genetics of muscular dystrophy. Currently I’m Chair Myo-Care National foundation in Cairo, Egypt and I serve as scientific committee member on the “Egyptian National Genome” project and represent North Africa in the WHO rare disorders panel of experts.

Lindsay Alfano
The Research Institute at Nationwide Children, Hilliard, United States

Lindsay Alfano is an assistant professor in The Abigail Wexner Research Institute at Nationwide Children’s Hospital. Dr. Alfano is a physical therapist specializing in outcome measure administration, selection, and development for patients with neuromuscular diseases.

Vahid M.Harandi
Lund University, Lund, Sweden

My name is Vahid M. Harandi and my background lies in Medical Sciences where I obtained a PhD from Umeå University investigating muscle pathophysiology of Amyotrophic Lateral Sclerosis (ALS). Currently I am a Postdoctoral researcher at Lund University (Sweden) working to understand the pathogenesis of laminin alpha2 chain-deficient muscular dystrophy (MDC1A) and to develop pharmacological treatment for this deteriorating disorder.

Anne Schänzer
Institute of Neuropathology, Giessen, Germany

Anne Schänzer is senior consultant and head of the neuromuscular lab in the Institute of Neuropathology at Justus Liebig University Giessen Germany. Dr. Schänzer is a neuropathologist specializing on morphology of skeletal and cardiac muscle including electron microscopy in genetic and acquired neuromuscular disorders.

Lindsay Alfano
The Research Institute at Nationwide Children, Hilliard, United States

Lindsay Alfano is an assistant professor in The Abigail Wexner Research Institute at Nationwide Children’s Hospital. Dr. Alfano is a physical therapist specializing in outcome measure administration, selection, and development for patients with neuromuscular diseases.

Helge Amthor
Université de Versailles, Montigny-le-Bretonneux, France

Helge Amthor, MD, PhD, is Professor of Pediatric Neurology at the Paris-Saclay University, France. His research focuses on pathophysiological questions of Duchenne muscular dystrophy.

James Dowling
Hospital for Sick Children, Toronto, Canada

Jim Dowling is a pediatric neurologist and senior scientist at the Hospital for Sick Children in Toronto, Canada. His research is focused on gene discovery and therapy development for congenital myopathies.

Meagan McGrath
Monash University, Clayton, Australia

Meagan McGrath BSc PhD, Biomedicine Discovery Institute, Monash University, Australia. Meagan’s research interests are focused on how abnormalities in the autophagy pathway impact skeletal muscle homeostasis, disease and exercise capacity. She is also interested in understanding the pathomechanism(s) and devising treatments for the growing number of severe disorders linked to mutations in the FHL1 gene (termed “FHL1 myopathies”).

Nicolas Wein
Nationwide Childrens Hospital, COLUMBUS OHIO, United States

Dr. Nicolas Wein received his PhD in the laboratory of Pr. Nicolas Levy, in France and his postdoctoral from 2011-2016 in the team of Pr. Kevin Flanigan in The Center for Gene Therapy in USA. Dr. Wein started his own group in 2016 working on neuromuscular disorders such as DMD and myotonic dystrophy type 1. He is also working on new way to deliver adeno associated virus to treat neuromuscular and neurological disorders.