Elucidating Gene Regulation by Leveraging Genetic Polymorphisms and Epigenetics to Uncover Disease Mechanisms

Our research focuses on understanding how genetic polymorphisms influence disease by affecting transcriptomic and epigenomic profiles in the immune system. However, most of these genetic polymorphisms are located within the non-coding regions of the genome, which are areas that do not directly code for proteins. This makes their interpretation particularly challenging, as their functional role is not immediately apparent. We use next-generation sequencing technologies to identify genetic polymorphisms associated with molecular traits, like changes in gene expression, and leverage information from epigenomic data (ChIP-seq, ATAC-seq, etc.) to pinpoint disease mechanisms.