Efthymiou Lab

Our current research centres on early-onset inherited neuropathies and neurodevelopmental disorders. We study patients from diverse ethnic backgrounds to improve representation in genomic datasets and reduce disparities in diagnostic yield. Using next-generation sequencing technologies alongside detailed phenotyping, we work on identifying novel disease genes and refine genotype–phenotype correlations in severe paediatric conditions. Functional validation is a core aspect of our work. We employs cellular systems as well as animal models, including zebrafish and mice, to investigate gene function during early brain and peripheral nerve development. These models enable us to explore pathogenic mechanisms in vivo, particularly those affecting synaptic biology, neuronal migration and myelination in the developing nervous system.