The role of spatial nuclear organisation in genome function

The three-dimensional folding of DNA inside the cell nucleus controls which genes are switched on and off, and this project uses microscopy to map that folding in detail. The linear sequence of the human genome—the order of As, Ts, Gs, and Cs—is only part of the story. Genes are regulated by distant DNA elements called enhancers, and most common genetic variants that influence disease risk lie in these enhancers, not in the genes themselves. How enhancers physically reach their target genes across the folded genome remains poorly understood. This research addresses that gap by combining fluorescence in situ hybridisation (FISH) with digital microscopy and automated image analysis to visualise genome folding directly. This is fundamental science. It does not aim to produce a diagnostic tool or treatment in the short term. However, understanding how genome organisation controls gene regulation could eventually explain why certain genetic variants increase disease risk, and may point to new ways to intervene. Similar fundamental work on genome structure has already reshaped how scientists think about cancer, developmental disorders, and ageing.