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).

He is a paediatric neurologist with special clinical and research interest in neuromuscular disorders. Thomas Sejersen conducts translational and clinical research into congenital myopathies, primarily desmin-related myopathies, spinal muscular atrophy and Duchenne muscular dystrophy, including clinical trials. His major role in TREAT-NMD is the development of standards of care for several paediatric neuromuscular disorders. He is also engaged in validation processes in the NMD-CHIP project, aiming to improve high throughput genetic diagnosis of neuromuscular disorders. Thomas is member of the board of European Paediatric Neurology Society.

Alesandra Ferlini is a professor in medical genetics, the head 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 and the European NeuroMuscular Centre.

For many years already her special interest and major research effort is concentrated on dystrophinopathies and hereditary neuromuscular pathologies. Distrophinopathies are hereditary diseases caused by heterogeneous mutations in the dystrophin gene. Aim of the actually conducted research is to identify the processes which determine the regulation of expression of this specific gene, particularly referring to the process of splicing and its modulation. Her research team is studying in vitro and in vivo systems to modulate mutations of the gene with antisense oligonucleotides while using new systems of release. Furthermore the team is in charge with the definition of the RNA profile of various pathologies neuromuscular and the identification of molecular markers. For a number of years already she is also part of the Italian Research group on Collagen VI myopathies that has recently published relevant dates on new clinical trials. She is also member of several European research groups that in particular are studying new therapeutic approaches of dystrophinopathies and other neuromuscular pathologies as well as innovative aspects of molecular diagnostics. She is provided with all ethical aspects referring to medical genetics and the therapy of genetic diseases. She is member of the Project Ethical Committee of the TREAT-NMD NoE, of group of genetic quality control at the Institute of Health (Italy), and of the key group of Medical Genetic Coordination of the Regione Emilia-Romagna (Italy).

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.

Jan is coordinator of the CARE-NMD project funded by the European Union since 2010 with the aim to improve standard of care for Duchenne muscular dystrophy throughout Europe (www.care-nmd.eu). He has a long-standing interest in the diagnosis and treatment of myopathies and muscular dystrophies in children and is head of the neuromuscular laboratory at Freiburg University. Current areas of research activities include the pathogenesis of muscular dystrophies and clinical trials in neurmuscular disorders.

Petra Kaufmann, M.D., M.Sc., is Director of the Division of Clinical Innovation at the National Center for Advancing Translational Sciences (NCATS). In this capacity, she oversees the Clinical And Translational Science Awards (CTSA) program, which supports a national consortium of medical research institutions working to transform the way biomedical research is conducted. The program is designed to help accelerate the translation of laboratory or clinical discoveries into treatments for patients, train a new generation of clinical and translational researchers, and engage communities in clinical research efforts. In partnership with other NIH Institutes and Centers, government agencies, patient groups, nonprofits, and industry, the CTSA program supports progress across a broad range of diseases and conditions, including cancer, neurological disorders, heart disease and multiple rare diseases.

Before joining NCATS, Kaufmann was the director of the Office of Clinical Research at the National Institute of Neurological Disorders and Stroke (NINDS), where she worked with investigators to plan and execute a large portfolio of clinical research studies and trials in neurological disorders, many of them in rare diseases. Prior to joining NINDS, Dr. Kaufmann was a tenured associate professor of neurology at Columbia University in New York City.  A native of Germany, she studied in Bonn, London and Paris before earning her medical degree from the University of Bonn, Germany, and a master of science degree in biostatistics from Columbia’s Mailman School of Public Health. She completed an internship in medicine at St. Luke’s/Roosevelt Hospital in New York City, and trained in neurology and clinical neurophysiology at Columbia University. Dr. Kaufmann is board-certified in neurology, neuromuscular medicine, and electrodiagnostic medicine.

She did a postdoctoral fellowship in molecular biology of mitochondrial diseases at Columbia’s H. Houston Merritt Center for Muscular Dystrophy and Related Diseases. While on the faculty of Columbia University, she worked clinically in the neuromuscular division, the electromyography laboratories, and the pediatric neuromuscular clinic. She currently sees patients in the Muscular Dystrophy Association Clinic at Children’s National Medical Center in Washington, DC. Her research focus is on the clinical investigation of spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS) and mitochondrial diseases.