CMT-Net - Charcot-Marie-Tooth disease
What is the Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease (CMT) is an inherited disease of the peripheral nervous system without known cure. It has a prevalence of one in 2500 people. Affected patients suffer from sensory and motor impairments in various degrees depending on the amount of axonal loss. Until now risk factors and the underlying molecular mechanisms are poorly understood.
Research in the CMT-NET
CMT-NET uses interdisciplinary expertise in order to identify genetic and non-genetic risk factors of disease severity of CMT. The mechanisms of the disturbed axon-glia-interaction and the identification of genetic modifiers constitute a major basic research focus.
CMT-NET aims to identify novel therapeutic targets and investigates the validation of outcome measures in children and adults. The consortium will establish a biobank and explore the disease burden via an internationally harmonized patient registry. The networks approach bridges cutting edge molecular screening techniques, transgenic animal models of altered axon-glia interactions (fly, chick, mouse and rat), state-of-the-art genomic technologies and human patient trials in order to understand and treat the disease aggravation in CMT.
Projects- Network Coordination and Information (Prof. Dr. Michael Sereda, University Medicine Göttingen, UMG)
- German CMT patient registry / burden of disease / gender aspects /CMT Biobank diagnosis (Prof. Dr. Maggie Walter, LMU, Munich)
- CMT Tissue Collection (CTC) (Prof. Dr. Wolfgang Brück, Prof. Dr. Joachim Weis, University Medicine Göttingen, University of Aachen)
- Next generation sequencing facilities (Prof. Dr. Moritz Rossner, University of Munich (LMU), PD Dr. Olaf Jahn, Max-Planck-Institute of Experimental Medicine, Göttingen)
- Electron microscopy facility (Prof. Dr. Joachim Weis, University of Aachen, Prof. Dr. Rudolf Martini, University of Würzburg)
- Natural history and risk factors in CMT during development (Prof. Peter Young, University of Münster, Prof Dr. Wolfgang Müller-Felber, University of Munich (LMU))
- Biomarkers, validation of selected outcome measures (CMTNSmod) (Prof. Dr. Michael Sereda, University Medicine Göttingen, UMG)
- Pregnancy assessment in Charcot-Marie-Tooth – neuropathy (Prof. Dr. Sabine Rudnik-Schöneborn, University of Aachen)
- In vitro: Forward and reverse signalling using barcode sensors in co-culture model system of CMT1A (Prof. Dr. Moritz Rossner, University of Munich (LMU))
- The role of known risk factors with regard to trophic support of axons in Charcot-Marie-Tooth disease using Drosophila as a model system (Prof. Dr. Mikael Simons, Max-Planck-Institute of Experimental Medicine, Göttingen)
- The role of known risk factors regarding neuronal vulnerability using transgenesis in the chick as a model system (Dr. Till Marquardt, European Neuroscience Institute, Göttingen)
- Investigation of the role of inflammation in a mouse model of CMT1A (Prof. Dr. Rudolf Martini, University of Würzburg)
- Lipid therapy in a transgenic rat model of CMT1A (Dr. Ruth Stassart, University Medicine Göttingen, UMG)
- Pathomechanisms of CMT: Relevance for human nerve pathology (Prof. Dr. Joachim Weis, RWTH Aachen University)
- Skin biopsies as a tool to identify risk factors from CMT1A patients (Prof. Dr. Claudia Sommer, University of Würzburg)
- Exome sequencing of extreme phenotypes to identify genetic modifiers in CMT1A (Prof. Dr. Jan Senderek, University of Munich (LMU))
Prof. Dr. Michael W. Sereda
DFG-Heisenberg Professor of hereditary Neuropathies
Dept. of Clinical Neurophysiology
University Medical Centre Göttigen (UMG)
37075 Göttingen
Phone: +49 (551) 3899–760
Website: www.cmt-net.de