Priya S. Kishnani, MD, is Chief of the Division of Medical Genetics, Department of Pediatrics and Director of the YT and Alice Chen Center for Genomic Research. She holds certifications from the American Board of Medical Genetics and the American Board of Biochemical Genetics. Dr. Kishnani has numerous appointments at Duke University Medical Center, serving as Director of the Glycogen Storage Disease Clinical and Research Program, Director of Clinical Trials, and Director of the Metabolic Clinic.
Throughout her career, Dr. Kishnani’s clinical and research efforts have focused on enhancing the continuity of care for individuals with rare and chronic genetic conditions using a multidisciplinary team approach, with an overarching goal of translational therapeutic development. Her passion is to establish the highest quality of care and treatment by understanding the emerging natural history of individuals through investigator-initiated studies and clinical research trials with a focus on glycogen and lysosomal storage disorders. She has extensively published her work on these conditions, their long-term complications, the development of treatment strategies, and long-term outcomes of treatment in clinical trials in various research publications, textbooks, and scientific reviews.

Dr. Kishnani has served a pivotal role in the development of treatments for Pompe disease (PD)—most notably first- and second-generation enzyme replacement therapy (ERT). Based on her research and clinical experience with PD, she has identified several factors that influence medical and developmental outcomes for patients, including early initiation of ERT and the extent of muscle involvement when ERT is initiated. Dr. Kishnani’s group also has been responsible for the development and validation of a reliable blood-based assay for measurement of acid alfa glucosidase using dried blood spots and is currently working to add PD to newborn screening panels nationwide. The success she has achieved in treating PD has set the stage for treatment approaches for other neuromuscular diseases, including spinal muscular atrophy and Duchenne muscular dystrophy, and for the development of a clinical consortium of neurology experts.

Mark Roberts, BSc, MBChB, FRCP, MD is a Consultant Neurologist with expertise in more common and rare disorders.

He works closely with other disciplines through joint and transition multidisciplinary clinics including metabolic medicine, rheumatology and ventilatory support.

He is the Manchester Lead on the North West Neuromuscular Network, awarded Network of Excellence in 2017, the Neuromuscular Lead at The Manchester Centre for Clinical Neurosciences, and the Research Lead for Metabolic Medicine.

He has worked in the Pompe field for over 20 years and is a board member of The European Pompe Consortium and The International Pompe Registry and has been an investigator in Clinical Trials of new enzyme replacement therapies.

Professor Dr. med. Benedikt Schoser, FEAN, is a trained neurologist, neurophysiologist, neurointensivist, palliative medicine doctor, and muscle pathologist. He is professor of neurology, senior consultant neurologist, and co-chair of the Friedrich-Baur-Institute, Department of Neurology at Ludwig-Maximilians-University in Munich, Germany. He is executive section editor of the journal Neuromuscular Disorders, a member of the editorial board of Current Opinions in Neurology and the European Journal of Neurology. He became fellow of the European Academy of Neurology (EAN) in 2017 and serves as a board member of their educational panel, rare disease panel, and scientific muscle and neuromuscular panel. Dr. Schoser is co-chair of the joint educational board of the EAN/European Union of Medical Specialists and organizer of the European neurology board examination. He is a long-term member of the World Muscle Society (WMS) and organizes the WMS teaching course. Since 2015 he has chaired the European Pompe Consortium. He authored more than 290 peer-reviewed publications (>55 in the field myotonic dystrophies, >55 in glycogen storage diseases) in clinical and translational science. Professor Schoser’s special interests are multisystemic neuromuscular disorders, translational research, and therapy.

Antonio Toscano, MD, is a full professor of neurology, University of Messina, Italy, at the Azienda Ospedaliera Universitaria Policlinico “G. Martino” Department of Clinical and Experimental Medicine, Neurology and Neuromuscular Disorders Unit.

His scientific activity has been primarily in neurogenetic diseases with specific reference to neuromuscular and neurodegenerative disorders. He is particularly dedicated to the diagnosis, management, and treatment of metabolic myopathies as muscle glycogenoses (with particular interest in glycogenosis type II, Pompe disease); lipid storage myopathies and mitochondrial disorders; genetic myopathies (limb-girdle syndromes, distal myopathies, channelopathies, cardiomyopathies, and congenital myasthenia); peripheral neuropathies (particularly, dysimmune and genetic neuropathies); and neurodegenerative diseases (ie, cerebellar ataxias and spastic paraparesis). He has also authored more than 160 publications in indexed journals.