Molecular genetics

My main research interest is on the molecular genetics and cellular pathogenic mechanisms of motor and sensorimotor neuropathies. I identified the hot-spot residue in the small heat-shock protein 22 causing distal motor neuropathy (distal HMN). Interestingly, we found mutations in the HSP22 molecular partner, another small heat shock protein encoded by HSP27 - to be associated with distal HMN and CMT2F. These mutations target amino acids critical for the structural and functional integrity of this protein superfamily. I truly became fascinated to understand the biology behind ubiquitous expressed proteins resulting in a specific peripheral phenotype. My current project focuses on the elucidation of the mechanisms of mutated HSP22/HSP27-induced neuronal and axonal dysfunction and thus I am shifting my attention from genetics to cell and neurobiology. I aim to decipher why mutations in HSP22/HSP27 result in specific peripheral neuropathy and my hypothesis is that distal HMN might be a...