The goal of my research is to elucidate the
molecular underpinnings of peripheral neurons through the study of peripheral neuropathies such as autosomal recessive Charcot-Marie-Tooth (ARCMT). More specifically, the project combines exome sequencing data
with positional cloning techniques such as homozygosity mapping to find new
candidate genes for these disorders. Subsequently, the putative genes
identified are further studied and characterized in model organisms (S.
cerevisiae, D.melanogaster).