Global database oversight committee - TGDOC

Anna Ambrosini (PhD in Pharmacology and Toxicology): 15 years experience in research laboratories active in the field of neuroscience. Since 2001 is Research Program Manager for the Italian Fondazione Telethon, where, in particular, she is responsible for developing programs in the field of inherited neuromuscular diseases.

Dr Svetlana Artemieva is head of the paediatric neurology section for the Moscow region at the Moscow Region Paediatric Psychoneurological Hospital No. 1. She is also responsible for the Russian patient registry for DMD and SMA together with the patient organization Nadezhda.

Christophe Béroud (PharmD, PhD): has 22 years experience in research laboratories and is an expert in bioinformatics (LSDBs) and molecular biology (diagnostic of DMC).

As father of a young man affected by DMD, Filippo has been working since 1996 to advocate for Duchenne and Becker patients in Italy, Europe and worldwide, always convinced that their work could open a new path for many other similar diseases/conditions. Filippo is also a pharmacist and his knowledge of the mechanisms of action of drugs and/or drug development are very helpful when it comes to translating complicated topics for families and patients. He has been involved with patient registries from the very beginning and have set up a national DMD/BMD patient registry in Italy, which is has been instrumental for conducting clinical trials.

Nick is the CEO of Action Duchenne a UK non profit that funds research for new medicines for Duchenne and campaigns to improve access to better medical care.

Pat Furlong is the Founding President and CEO of Parent Project Muscular Dystrophy (PPMD) which she founded together with other parents of young men with Duchenne in 1994.

Kevin is the Director of the United Dystrophinopathy Project, a NIH-funded consortium studying the natural history and genotype/phenotype correlations in the DMD gene.

Dr. Veronika Karcagi, PhD is Head of Department of Molecular Genetics and Diagnostics at the National Institute of Environmental Health in Budapest.

Dr. Jan Kirschner is  coordinator of the Clinical Trial Coordination Centre (CTCC) based in Freiburg, Germany.

Professor Hanns Lochmüller joined the Newcastle Muscle Centre in 2007 from Munich. Together with Volker Straub, Hanns was responsible for setting up the German muscular dystrophy network, MD-NET, of which he was Coordinator (jointly with Volker Straub) until 2008.

Vitaliy grew up in the Ukraine and graduated in 1993 from Kharkiv National University after specializing in nuclear physics. He worked both in this area and as a forensic investigator until the birth of his daughter. At the age of one she was diagnosed with spinal muscular atrophy and as a result of this in 2004 Vitaliy founded the Foundation “Children with SМА”.

Marie-Christine is mother of a girl affected by SMA. She is a member of AFM Board of Directors, AFM international committee and TREAT-NMD Project Ethics Council.

Thomas Sejersen (MD, PhD): Head of clinical and research team for neuromuscular disorders in childhood. He is involved in ENMC workshops on DMD and desmin-related myopathies.

Born in La Plata Argentina, Eduardo is a specialist in Pediatrics and Medical Genetics also he is the Principal Investigator of the U-705 CIBERER. He is devoted to diagnosis and research in SMA at the Hospital of Sant Pau of Barcelona, a reference Center for SMA diagnosis from all over Spain.

Sylvie Tuffery-Giraud (PhD) has 16 years experience in molecular analysis of the dystrophin gene and is particularly involved in mutations leading to splicing defects.

Dr Simon Woods is a bioethicist at the Policy, Ethics and Life Sciences Research Centre (PEALS).

Peter Van den Bergh is a neurologist, who is director of the Neuromuscular Reference Centre , of the EMG laboratory, and of the neuromuscular pathology laboratory, located at the Cliniques Universitaires St. Luc in Brussels.

Dr Jan Verschuuren is a neurologist at the Department of Neurology of the LUMC, where he heads the neuromuscular section.