Pelagia Derizioti

I am a biochemist/cell biologist and have always been fascinated by modern neuroscience. In my doctoral work I investigated the role of protein degradation mechanisms, such as the ubiquitin-proteasome system and autophagy, in prion diseases like Creutzfeldt Jakob disease. Currently, I study brain pathways important in speech and language development. This work uses genes associated with language disorders as ‘molecular windows’ to gain novel insights into neural mechanisms contributing to human communication.
My primary research couples cutting-edge genetic techniques with cell-based functional genomics to investigate the contributions of FOXP transcription factors to speech and language development. FOXP2 is a gene implicated in rare monogenic forms of speech and language disorder. Variants disrupting FOXP1 were recently identified in individuals with mild to moderate intellectual disability, autism and severe language defects. In my work I am functionally characterising aetiological FOXP2 and FOXP1 variants uncovered via exome sequencing and other targeted next-generation sequencing strategies.
I am also utilizing a translational profiling approach for molecular characterisation of specific neuronal cell types, such as striatonigral, striatopallidal and cerebellar Purkinje cells. By comparing the translational profiles of wildtype cell populations to those that express aberrant forms of FOXP2 or FOXP1, I aim to identify cell-specific downstream pathways involved in speech and language development.