The UCL partnership comprises the 6 Belgian Neuromuscular Reference Centres, located at the University Hospitals of Louvain, Liège, Leuven, Gent, Brussel, and Antwerpen. One of the goals of extending the UCL partnership to these 6 national Belgian Neuromuscular Reference Centres is to facilitate patient registration in national and supranational registries (TNMD) (WP04).

Involved in WP 07.2, 07.3 and 07.4
Two objectives are defined: (1) defining the standards required to validate existing and new models animal models of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy [WP7.2], and (2) drawing expert consensus on best practice for performing in vivo and in vitro evaluation on these models. Collected information will be put on the Treat-NMD website as “standard operated procedures (SOPs)” [WP7.4].

Websites

• Université catholique de Louvain
• Katholieke Universiteit Leuven, Universitair Ziekenhuis 
• Clinical and Experimental Neurology Leuven
  Belgium
• University Hospital Ghent
  
• Department of Molecular Genetics - University of Antwerp, Belgium
• Université de Liège, Hôpital de la Citadelle, Liège

Professor Gunnar Buyse is Associate Professor at the University in Leuven, and is deputy clinical chair of Child Neurology at the University Hospitals Leuven. Professor Buyse has longstanding expertise in basic, translational and clinical research. He has been/currently is principal investigator or co-investigator of several pivotal clinical trials in muscular dystrophy. His group also contributes to preclinical phases of drug development in muscular dystrophy, by doing in vivo phenotypic assessments of animal models, and by doing very long-term randomized controlled therapeutic studies in animal models. He leads a state of the art muscle performance laboratory for quantitative assessment of skeletal muscle function in children, and is involved in international efforts on the optimization of study outcome measures for clinical studies in pediatric neuromuscular diseases.

As head of the Myopathology research Laboratory and Director of the Neuromuscular Reference Center, Prof. De Bleecker has been involved in scientific research and clinical diagnosis and treatment of neuromuscular disease for more than 15 years.

The research lab is internationally renowned for the study of inflammatory myopathies and publishes regularly on the immunopathogenesis of these acquired autoimmune diseases. Studies included the involvement of various mediators of chronic inflammation such as cytokines, chemokines and adhesion molecules. Also, understanding the glucocorticoid resistance of inclusion body myositis is a central research aim for the lab. Prof. de Bleecker’s clinical expertise focuses on adult neuromuscular disease in its various forms and on neurodegenerative disorders.

Our molecular genetic research is focused on the unraveling of the causes of inherited peripheral neuropathies. Over the years we collected a large biobank containing DNA samples and clinical files of more than 3000 unrelated individuals/families. We have access to a high-throughput core facility for DNA analyses and perform linkage analyses and gene identification studies. We keep a publicly available database of all reported mutations in inherited neuropathies: http://www.molgen.ua.ac.be/CMTMutations/

We provide molecular genetic diagnosis for inherited peripheral neuropathies in our diagnostic unit.

In the neuromuscular clinic we have access to a large group of patients with diverse neuromuscular disorders. Our neuropathology laboratory has a large experience with examinations of muscle and peripheral nerve specimens including electronmicroscopy.

Professor Linda De Meirleir is head of the department of pediatric neurology and is particularly interested in metabolic and neuromuscular diseases. The prime focus in the clinic is the care of patients that need an exact diagnosis in the field of neuromuscular and metabolic diseases and  the multidisciplinary follow-up. Research is done in our centre particularly on the investigation of mitochondrial diseases on the molecular level in mt DNA and the nuclear genes such as genes involved in mitochondrial depletion and assembly genes of the respiratory chain.

For ten years, the laboratory of cell physiology has focused on quantitative analysis of functional disorders resulting from the lack of dystrophin in murine models of DMD, using a battery of functional tests to evaluate the benefits of various therapeutic attempts, mostly gene therapy, through gene transfer with viral vectors and transgenesis.

We developed different tests for analysis of the mechanical properties of dystrophin-lacking muscles, and introduced the most specific test of eccentric contractions. Our present research focuses on intracellular calcium homeostasis in muscle and non muscle cells. In particular, our team studies the properties of TRP ion channels and their role in apoptosis, in muscle development and in DMD (implication of calpain proteases).

Nathalie Goemans is a pediatrician and child neurologist, staff member at the department of Pediatrics and Child Neurology, and head of the Neuromuscular Reference Center for Children at the University Hospitals Leuven, that serves as a centralized clinical centre for patients with neuromuscular disorders and provides required facilities for conducting and participating in clinical trials.
She has longstanding experience in clinical research in NMD with experience in muscle strength ,motor function, and Quality of Life measurement testing protocols in international multicentre trials and is investigator of ongoing clinical trials in DMD such as PRO051-02: phase 1/2,  PTC124-GD-007-DMD: phase 2b, and co –investigator of SNT-II-001-E: phase 2, extension study, in DMD. 

Professor Jean-Paul Misson is director of the pediatric section of the Neuromuscular Reference Centre of the University, located at the Citadelle Hospital.

Jean-Marc Raymackers is a neurologist. During his PhD under JM Gillis’s supervision, he worked on pathophysiology and therapy on several animal models of muscular dystrophies. He used multifunctional evaluation, including in vivo testing , muscle mechanics, (immuno-) histology, and biological analyses, etc… After a post-doc in J Melki’s lab, he developed a neuronal cell model of spinal muscular atrophy. He is now lecturer at the Institute of Physical Education and Rehabilitation, and he is conducting his research within the Institute of Neuroscience. He is working on pathophysiology and therapy of neuromuscular disorders, through cellular and animal models. He is involved in the WP7.2-7.4 packages of the Treat-NMD network.

The laboratory focuses on the mechanism of motor neuron degeneration as seen in amyotrophic lateral sclerosis and distal hereditary motor neuropathies, aiming to contribte to the development of a therapy for these diseases. For this purpose, in vitro and several in vivo models are used, such as zebrafish, mice and rats.

The mechanism of motor neuron degeneration as relevant for amyotrophic lateral  sclerosis and distal hereditary motor neuropathies

Doctor Eric Schmedding is head of the department of clinical neurophysiology. He runs the neuromuscular reference centre for adults as far as the diagnostic phase is concerned. His main interest is in the field of electromyography.

A Paediatrician who has specialized in the functional rehabilitation, Doctor Soudon has worked for more than 35 years in the field of clinical and social integration of neuromuscular people.

He founded and is still head of the Mechanical (Home)Ventilation Centre, which, with specialized staff members, focuses on the noninvasive techniques of assisted ventilation, at night and during the daytime, in patients without muscular strength. Present clinical research considers a better social integration of ventilated people in the community using new techniques for teaching the families and the professionals (included e-learning).

Professor Jean-Louis Thonnard is leading the physical medicine and rehabilitation research unit. This unit is an internationally recognized multidisciplinary group of 15 postdoctoral and postgraduate researchers. Lab facilities include advanced motion and force-plate recording, EMG recording, actuation and displays systems for lab. The research interests of the group focus on a better comprehension of the role of touch in complex interactions between feedforward and feedback mechanisms in precise manipulative tasks. They are also developing a new approach based on the Rasch model to develop and validate outcome measures in Rehabilitation and most particularly ACTIVLIM, a measure of activity limitations in patients with neuromuscular disorders ( http://www.rehab-scales.org/)

Prof. Van Coster is division head of the Department of Pediatric Neurology and Metabolism, director of the Neuromuscular Reference Centre and for almost twenty years he’s head of the Mitochondrial Investigations Laboratory. He is an expert in pediatric neurological disorders with main focus on the mitochondrial neuromyopathies. The laboratory he is leading, is the only one in Belgium that offers both routine diagnostics on mitochondrial oxidative phosphorylation (OXPHOS) defects and further scientific work-up of patients in whom such a defect has been detected. Further more, the lab has developed a specific diagnostic strategy which simplifies the search for the underlying molecular defect in these disorders. Besides the classical spectrophoto-metry also Blue Native Polyacrylamide (BN-PAGE) combined with activity staining in the gel and different immunological techniques are used. The combined use of all these techniques allows the identification of the patholological mechanism in these disorders and finally provide crucial information to locate the underlying gene defect.

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. He is coordinator of the UCL TNMD partnership members, working at the UCL (WP 07.2, 07.3 and 07.4) and directing the Belgian Neuromuscular reference Centres. Current objectives are the creation of a Belgian Neuromuscular Disease registry and the Belgian DMD/BMD registry for TNMD (WP04).

My Linh Cao: skilled in muscle mechanics, handling single muscle fibres, standard biochemistry experience (electrophoresis, Western blots etc) and histological techniques (immunohistochemistry).