Neuromuscular disorders

Background and research focus


The research group for neuromuscular disorders was founded by prof. Jan De Bleecker in 1994, and has been exploring the myopathology of human neuromuscular disorders ever since. This sustained commitment has allowed the group to grown into the renowned research entity it is today, internationally recognized for its expertise in inflammatory muscle disease. Research programs include descriptive studies in patient tissues, mapping the immunopathogenetic processes of human disease, in vitro muscle cell studies revealing functional pathways, and in vivo mouse studies exploring innovative treatment strategies.

Research focus

The activities of the research group can be divided into the following themes:

  • Characterization of underlying inflammatory processes in myositis: Several ongoing research projects study the inflammatory mediators responsible for muscle inflammation in autoimmune muscle diseases. Focus lies on the involvement of cytokines and chemokines in the recruitment and activation of intramuscular inflammatory cells, and the downstream signaling routes they provoke. Descriptive research on patients’ muscle biopsies is confronted with in vitro studies to evaluate the functional effects on muscle cells.
  • Clinical classification of the different idiopathic inflammatory myopathies: Myositis represents a heterogenic group of rare disorders, and subdividing patients into clinically relevant subgroups is complicated, yet extremely relevant for prognosis and treatment. The research group develops and refines innovative diagnostic techniques and criteria, and participates in international initiatives on that topic.
  • Inflammatory components of hereditary muscle diseases: Ongoing research projects evaluate the association of muscle inflammation and muscle damage caused by defects in the dystrophin-associated glycoprotein complex, and compare their characteristics with those of muscular diseases of autoimmune origin.
  • Involvement of chaperones and osmoregulatory factors in myositis: Tissue stress associated with muscular disorders activates a complex recovery program, in which protein chaperones and osmolyte accumulators participate. Current research projects study these mechanisms in muscle from myositis and muscular dystrophy patients. Moreover, their patterns of expression are studied in vivo in the most early phases of disease in a model of Duchenne muscular dystrophy, i.e. the mdx mouse.
  • Translational studies: The research group participates in Phase II and III clinical studies for the treatment of neuromuscular disorders, including multifocal motor neuropathy, sporadic inclusion body myositis, myasthenia gravis, and amyotrophic lateral sclerosis. In addition, pre-clinical studies for Duchenne muscular dystrophy are conducted using the mouse model mdx. Innovative treatment strategies able to boost muscle tissue recovery and temper tissue inflammation are developed and scrutinized for future use as supportive therapies.


Professors and Guest Professors

Jan De Bleecker

Postdoctoral researchers

Boel De Paepe (Ghent University Hospital) (contact person)

PhD candidates

Technical staff

Sophie D'hose (Ghent University Hospital)

National and international collaborations

Research group members are active in international and national networks connecting muscle experts. Prof. Jan De Bleecker and dr. Boel De Paepe are members of MYOGEN,TREAT NMD, the World Muscle Society, and the Belgian-Dutch Muscle Study Club. Prof. Jan De Bleecker is a member of EURO-NMD, the European Reference Network (ERN) for rare neuromuscular diseases, the International Society of Neuropathology, the American Academy of Neurology, and the Society for Neuroscience. Dr. Boel De Paepe is mentor for the International Federation of Medical Students’ Associations (IFMSA) SCORE research exchange programs. On a national level, prof. Jan De Bleecker is member of the Flemish Association of Neuro-psychiatrists, the Belgian Society of Neurology, the Belgian Society of Neuropathologists, and the Belgian Stroke Council.

The research group participates to OSMYO, the ‘University 4 network’ connecting the Universities of Ghent, represented by prof. Jan De Bleecker, Göttingen and Uppsala. The network is dedicated to research studies of osmolyte pathways in myositis. OSMYO was founded by dr. Boel De Paepe, and she has been coordinating the network since its establishment in 2014. The consortium frequently publishes joint articles and presents abstracts on international scientific conferences.

International collaborations of the research group include: Center of Research in Myology, Sorbonne University, and Institute of Myology, General Hospital Pitié-Salpêtrière, Paris, France; Department of Neurology, University Medical Center, Amsterdam, and Department of Biomolecular Chemistry, University Medical Center, Nijmegen, The Netherlands; Department of Neurology, University Hospital, Göttingen, Germany; Department of Immunology, Genetics and Pathology, Uppsala University, Sweden; Department of Neurology, University Hospital, Tampere, Finland; National Institute for Health Research and Biomedical Research Center, University Hospital, Manchester, and Institute of Neurology, London, United Kingdom.

National collaborations include Neurogenetics Group of the Center for Molecular Neurology, VIB-University Antwerp, Institute Born-Bunge and Neuromuscular Reference Center and Department of Neurology, Antwerp University Hospital; Department of Neurosciences and Laboratory for muscle diseases and neuropathies, KU Leuven.

The research group receives support from patient organizations, including the Association Belge contre les Maladies neuroMusculaires (ABMM).

Defended PhDs (last 5 years)

Osmolytes and their therapeutic applicability in the mdx mouse

Caroline Merckx (2023)

NFAT5 in myositis and Duchenne muscular dystrophy : localization, expression and interaction with glucocorticoids in in vitro cell models

Sandrine Herbelet (2021)