Molecular Genetics and Biology of Intermediate Charcot-Marie-Tooth neuropathy.

In this FWO apirant mandate we will search for novel mutations in YARS associated with dominant intermediate CMT (DI-CMT), which is essential to make genotype-phenotype correlations. The development of animal models where cellular/tissue dysfunction can be evaluated in an in vivo situation is of crucial importance. Developing such a model in the model organism D. melanogaster will allow us to test the hypothesis on how DI-CMTC is triggered and to screen for genetic and chemical modulators of DI-CMT disease.

Keywords:CHARCOT-MARIE-TOOTH DISEASE

Disciplines:Genetics, Microbiology, Systems biology, Molecular and cell biology, Neurosciences, Veterinary medicine, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing

Project type:Collaboration project