Genomic, transcriptomic, and functional approaches to disease mechanisms
Overview
This research line uses a combination of bulk and single-cell RNA sequencing, interpretation of whole-exome data and functional assays to analyse disease mechanisms in rare disorders such as CCHS, PWS, Alexander disease and Visceral Myopathy. These data are integrated with pathway enrichment, network analysis, and connectivity mapping in order to prioritise mechanistic hypotheses and potential therapeutic interventions. Multiomic analysis is employed to investigate the impact of genetic background and modifier variants on variable expressivity and reduced penetrance.
Collaboration with
Federica Viti