Rita Franco Paulo Guimarães
My project aims to identify structural variants (SVs) as genetic drivers of Alzheimer’s Disease (AD). In the vast majority of AD cases, the causative genetic variant is unknown. The presence of structural variants in AD associated loci might explain the complexity of this disease. We want to investigate whether or not the increased length of SVs, due to instability or recombination events, are associated with the risk of developing AD. The mechanism by which SVs interfere with gene regulation or transcription will be dissected by analysing the transcriptomes of CRISPR-edited human cortical organoids.