Research for Rare - Research for rare diseases

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. 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.

Projekte
Kontakt
Coordinating investigator:

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

Publications

Forschung hilft heilen! Am Beispiel der erblichen Neuropathien

Download (PDF)

Worldwide Campain on Charcot-Marie-Tooth

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