TREAT-NMD Executive Committee

Professor Hanns Lochmüller trained as a neurologist in Munich (Germany) and Montreal (Canada). He was appointed chair of experimental myology in the neuromuscular research group at the Institute of Genetic Medicine of Newcastle University in 2007.

Hanns is co-founder and former coordinator of the German muscular dystrophy network (MD-NET), and scientific coordinator of EuroBioBank, a European network of biobanks for rare disorders. He leads the activity on “patient registries and biobanks” for TREAT-NMD, and was elected Chair of the Executive Committee in April 2012.

Dr. Annemieke Aartsma-Rus played an important role in the development of the antisense mediated exon skipping therapy for Duchenne muscular dystrophy during her PhD research (2000-2004), which was supervised by Dr. Judith van Deutekom, Dr. Johan den Dunnen and Prof. Dr. Gert-Jan van Ommen at the Leiden University Medical Center, Department of Human Genetics (the Netherlands). She successfully defended her thesis titled “Development of an antisense-mediated exon skipping therapy for Duchenne Muscular Dystrophy – Making sense out of nonsense” on February 10^th 2005. Since September 2004 she continued this research as a post doc under supervision of Dr. Judith van Deutekom.

Anna Ambrosini, PhD, is coordinator of the activities of the Italian TREAT-NMD partner Fondazione Telethon (FTELE). She works by the Telethon Scientific Office in Milan where she is responsible for the development of programs of research on inherited neuromuscular disease, particularly targeting clinical research.

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.

Dr. Kevin Flanigan is a Professor of Neurology and Pediatrics at the Ohio State University, and a Principal Investigator at the Center for Gene Therapy at Nationwide Children's Hospital in Columbus, Ohio.  He has extensive experience in the design and development of patient registries, and has served as the Director of the United Dystrophinopathy Project, an NIH-funded genotype/phenotype database and registry.

Eric Hoffman, PhD earned his PhD in Genetics at Johns Hopkins University and then pursued post-doctoral training with Louis Kunkel at Boston Children’s Hospital working on Duchenne muscular dystrophy gene and protein identification.

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.

Eugenio Mercuri Md PhD (Associate Professor in Pediatric Neurology): areas of expertise: congenital muscular dystrophy, outcome measures and assessment tools in neuromuscular disorders.

After having 5 years of clinical neurology training, Dr. Nishino started muscle disease research from 1994 under the tutelage of Dr. Ikuya Nonaka, who remained a steadfast source of inspiration. Later, his postdoctoral research for two years at Columbia University solidified his yearning to focus on research. In 2001, he was appointed directorship of the current Department of Neuromuscular Research and since then, he has been directing his team on the research to elucidate the pathomechanism and develop the therapy for hereditary muscle diseases, including DMRV/hIBM and various muscular dystrophies.

Professor Kathryn North is the Douglas Burrows Professor of Paediatrics, Faculty of Medicine, University of Sydney and Head of the Institute for Neuroscience for Muscle Research (INMR) based at The Children's Hospital at Westmead, Sydney, Australia. She is a joint Chair of the Australasian Neuromuscular Network which now has over 270 members – clinicians and researchers in the neuromuscular field.

Jes is a specialist in neuromuscular rehabilitation and also a volunteer in Muskelsvindfonden, the Danish patient organization for NMD. Additionally Jes is Chairman of Muskelsvindfonden's 1) scientific committee, 2) ethical committee and 3) international relations committee.

He represents Muskelsvindfonden in the ENMC where he has just been elected Chairman of the Executive Committee.
Jes works as Chief Medical Officer and Director of the Danish National Rehabilitation Centre for Neuromuscular Diseases and is an associated partner in CARE-NMD which is a DMD project under TREAT-NMD.

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).