Neuromuscular pathology, ENMG and neurophysiology laboratory

Prof. Thierry Kuntzer, Dr David Benninger

Research focuses on certain neuromuscular pathologies and the neurophysiology of the peripheral nervous and central motor systems.

Neuromuscular pathologies

Clinical Research

  • Genotype-phenotype correlations of muscular and neuromuscular junction diseases through the monitoring of patients in a clinic dedicated to genetically determined illnesses.
  • Inclusion of patients in therapeutic studies, contributing to the search for more effective treatments for inflammatory diseases.

Contribution to basic research

  • Mechanisms that cause the onset and persistence of inflammation in chronic inflammatory demyelinating polyneuropathy(CIDP): characterisation – through molecular biology – of gene expression profiles during skin biopsies.
  • The study of elastic properties of the skeletal muscle membrane in different muscular diseases using atomic force microscopy. This project measures the nanometric properties of muscle fibres with the aim of evaluating discriminative parameters of different types of muscular dystrophy and myopathy using frozen human muscle tissues.
  • The study of respiratory disorders of a murine model of a muscular disease, myotonic dystrophy type one (Steinert’s Disease, DM1), allowing us to explain its origin and discover treatment targets.

Collaborations involve the following groups

  • Geneviève Gourdon, INSERM U383, Paris (DM1 transgenic mice). Contact: A Panaite, CHUV Neurology Lab and DBCM UNIL.
  • Nicolas Mermod, Institut de Biotechnologie UNIL, Andrzej Kulik, Institut de physique EPFL, et Malgorzata Lekka, Laboratory of Biophysical Microstudies, Institute of Nuclear Physics, Polish Academy of Sciences, Krakow, Poland (atomic force microscopy). Contact: S Puttini, CHUV Neurology Lab and UNIL.
  • Roman Chrast, genetics department, UNIL (electrophysiological studies on animals).
  • Susanne Renaud, Neuchâtel, Keith Harshman, UNIL genetics, Andreas J. Steck Bâle (gene expressions in skin biopsies)

Publications

 

 Last updated on 07/02/2018 at 20:55