Kay Ohlendieck is Professor and Chair of the Biology Department at Maynooth University, Ireland. He received a DipBiol from the University of Konstanz, a PhD from University Cork and a DSc from University College Dublin. His main research interests are neuromuscular biology, muscle biochemistry and mass spectrometry-based proteomics of neuromuscular disorders.

Lilli Winter is a molecular cell biologist and group leader at the Center of Anatomy and Cell Biology, Medical University of Vienna. Her major research focuses on myofibrillar myopathies (MFM), progressive and devastating diseases of the human skeletal muscle that often lead to premature death. MFM are defined by the presence of protein aggregates in muscle cells and therefore encompass a wide group of muscle disorders. Lilli is especially interested in understanding the molecular mechanisms leading from an individual gene defect to a mutually shared myopathological disease manifestation. Knowledge of proteins and mechanisms involved (especially beyond aggregate formation) is limited, but critical for the understanding of patients’ needs and the development of treatment concepts. Lilli’s aim is to provide novel insights into the sequential steps that lead to cellular dysfunctions in various types of MFM, with a special focus on plectin- and desmin-related MFM, and to clarify the downstream molecular pathways and fundamental mechanisms that lead from myofiber alterations and resulting cellular stress to weakness and damage.

As a pediatric neurologist, Hilde Braakman is committed to children with muscular diseases, both in healthcare and in research, with a focus on improving care for children with myotonic dystrophy and their families.

Jan Kirschner is an experienced paediatric neurologist, specializing in neuromuscular disorders. He serves as the head of the Department of Neuropediatrics and Muscle Disorders at the Medical Center – University of Freiburg, Germany. With a focus on improving diagnostics and therapies for rare genetic diseases such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD), Prof. Kirschner has been instrumental in advancing clinical research and care standards in these fields. He is actively involved in leading international collaborative projects and registries, such as EURO-NMD, SCREEN4CARE, and SMArtCARE, which aim to enhance long-term outcomes for patients. A dedicated researcher and clinician, Prof. Kirschner has published extensively in peer-reviewed journals and is committed to integrating innovative therapies into routine care to benefit patients.

Annemieke Aartsma-Rus is professor of translational genetics at the Department of Human Genetics at the LUMC. She has a visiting professorship with the John Walton Muscular Dystrophy Research Centre at the Institute of Genetic Medicine of Newcastle University. In 2011 she received the Duchenne Award from the Duchenne Parent Project for her dedication and research in Duchenne Muscular Dystrophy. In 2021 she received the Black Pearl Science Award from Eurordis.

Kevin Flanigan is the Director of the Center for Gene Therapy at the Abigail Wexner Research Institute of Nationwide Children’s Hospital (NCH) in Columbus, Ohio (USA), where he holds the Robert F. & Edgar T. Wolfe Foundation Endowed Chair in Neuromuscular Research.  He is also Director of the Neuromuscular Division as well as the MDA and Neuromuscular Clinics at NCH, and Professor of Pediatrics and Neurology at the Ohio State University.  He directed the NCH NIAMS P50-funded Center of Research Translation in Muscular Dystrophy Therapeutic Development from 2016-2022.

He has been a member of the Executive Board of the World Muscle Society since 2001, and is also a past chair of the Executive Committee of TREAT-NMD.  Kevin’s laboratory’s work is directed toward the molecular characterization and therapy of neuromuscular diseases using both gene replacement on RNA-modifying therapies, and toward the identification of genetic modifiers of disease.  He has conducted multiple clinical trials of gene modifying and gene transfer therapies in Duchenne muscular dystrophy (DMD) as well as the childhood neurodegenerative disorders mucopolysaccharidosis types 3A and 3B.

Sabrina Sayah is a psychologist specialising in neurogenetic and neuromuscular diseases, with a focus on cognitive and emotional adaptation to chronic illness. She is currently working in a Neuromyology Department, combining clinical care and research.

Dr. Cynthia Gagnon is a full professor at the School of Rehabilitation at Université de Sherbrooke and serves as the scientific director of the Interdisciplinary Research Group on Neuromuscular Diseases (GRIMN) since 2011. 

Dr. Gagnon is an occupational therapist by training with specialized expertise in adult genetic neuromuscular disorders. Her research focuses on the natural history and progression of rare diseases such as myotonic dystrophy type 1 (DM1), autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), and oculopharyngeal muscular dystrophy (OPMD). She also plays a key role in developing and validating clinical outcome measures tailored to these conditions.

Dr. Gagnon is widely recognized for her leadership in patient-centred research and multidisciplinary collaboration. She is an active contributor to national and international networks dedicated to neuromuscular disease research.

Ros Quinlivan has been a consultant in Neuromuscular diseases since 1995.  She leads a national service for muscle glycogenoses. 

Ros also leads a young adult neuromuscular service, which sees a large cohort of teenagers and adults under 30 years of age, including DMD, BMD and LGMD and congenital muscular dystrophies and myopathies. She developed and led the Neuromuscular Complex Care Centre at the National Hospital for Neurology and Neurosurgery which brings all of the specialists and allied health professional to the patient in one visit. Her research interests are in DMD, congenital myopathies, McArdle disease and acute rhabdomyolysis.

Professor Willis is medical director of the Severn Hospice.  He has an interest in palliative care for adults with neuromuscular conditions and has worked in partnership with Robert Jones and Agnes Hunt Hospital to define what this service should look like locally and nationally.  He is head of the education department at the hospice and has an interest in medical ethics and philosophy.  He has a higher degree in medical ethics and runs national conferences in the subject. 

Dr. Melissa Spencer is Professor of Neurology and Neuromuscular Program Director in the UCLA David Geffen School of Medicine. She obtained her PhD from UCLA and established her independent lab in 1999. She was awarded a Presidential Early Career Award for Scientists and Engineers (PECASE) and serves on NIAMS Council. Her lab utilizes advanced genetic engineering technology to develop new treatments for Duchenne muscular dystrophy and limb girdle muscular dystrophies.  These approaches include CRISPR based gene editing platforms as well as gene replacement therapies.  The lab is interested in both non-viral and viral delivery approaches for delivering these therapies. The Spencer lab is also interested in defining how the immune system promotes muscular dystrophy and as a separate line of inquiry, how immune cells respond to AAV exposure. Understanding this interaction can lead to new therapeutic targets to improve the safety and efficacy of gene therapies that rely on AAV as a delivery vehicle. Dr. Spencer serves on the Scientific Advisory Committee for the Muscular Dystrophy Association, Parent Project Muscular Dystrophy, AFM and the Coalition to Cure Calpain 3.

Oumeya ADJALI (MD, PhD), graduated with a MD at the University of Constantine (Algeria) in 1999 and with a PhD at the University of Montpellier (France) in 2006. She joined the French Institute of Health and Medical Research INSERM in 2010. Since January 2017, she is the director of TaRGeT laboratory (Translational Research in Gene Therapy) in Nantes University. She has been working at the interface of cell and gene therapies using lentiviral and Adeo-Associated Viral (AAV) viral vectors for more than 22 years. Since 2007, her research focuses on the development of AAV gene therapy products for the treatment of neuromuscular and retinal diseases. She has been involved as an immunology expert in several preclinical and clinical AAV trials.  She is an active member of ESGCT and ASGCT committees. She is currently the president of the French Society of Gene and Cell Therapy (SFTCG).

Dr. Millay is a Professor in the Division of Molecular Cardiovascular Biology at Cincinnati Children’s Hospital Medical Center. Research in the Millay laboratory aims to identify the factors and biochemical mechanisms that govern muscle stem cell fusion and then ultimately translate that information to augment pathological conditions such as muscular dystrophy. We discovered the muscle-specific proteins (Myomaker and Myomerger) that are necessary and sufficient for myoblast fusion.  We have a wide-range of projects in the lab, funded by NIH and industry sources, that encompass basic and translational biology related to the muscle fusogens and the consequences of fusion, namely formation of a multinucleated syncytium that impacts muscle development, adaptations, and disease.

Heather Lau, M.D. M.S. is a board certified neurologist with special qualifications in child neurology. Dr. Lau received her bachelor of science with honors from Cornell University and a master of science in biochemistry and molecular biology from New York Medical College. She went on to receive her doctorate of medicine from the University of Rochester. She trained in pediatrics at Montefiore Medical Center and completed her child neurology training as well as additional fellowship training in Neurogenetics from New York University.

Previously, Dr. Lau was assistant professor in Child Neurology at NYU School of Medicine and the Director of the NYU Lysosomal Storage Disorders Program at NYU Langone Health and associate director of the Division of Neurogenetics where she maintained a large and diverse practice of patients with rare, inherited disorders of the nervous system with a special interest in lysosomal storage disorders and leukodystrophies. 

Dr. Lau is now an adjunct assistant professor at Yale University in the Lysosomal Program in the Department of Internal Medicine continuing her efforts in rare disease research. Throughout her academic career, Dr. Lau had been actively engaged in clinical research and a principal investigator for over 40 clinical interventional trials and disease registries evaluating enzyme replacement therapies, small molecules, and gene therapy.