Project description

This research project aims to generate patient-specific induced pluripotent stem cell (iPSC)-derived brain cells to model the effects of Type I Interferon (IFN)-driven neuroinflammation in Aicardi-Goutières Syndrome (AGS). AGS is a rare genetic disorder caused by mutations in genes involved in RNA sensing pathways, leading to an overactive IFN response and subsequent neuroinflammation. By using patient-derived iPSCs, we can generate different types of brain cells, including astrocytes and microglia, which will allow us to model the specific effects of these mutations in disease-relevant tissues.

We will use a variety of experimental techniques, including quantitative PCR (qPCR), flow cytometry, cytokine ELISA, RNA-seq and iCLIP, to further explore these cellular models and to gain a deeper understanding of the underlying molecular mechanisms of Type I IFN-driven neuroinflammation in AGS. This project will provide valuable insights into the pathogenesis of AGS and may lead to the development of new therapeutic targets for the treatment of this debilitating neurological disorder.