Using a new technique called MCC ultra, the team mapped the human genome down to a single base pair, unlocking how genes are controlled, or, how the body decides which genes to turn on or off at the right time, in the right cells. This breakthrough gives scientists a powerful new way to understand how genetic differences lead to disease and opens up fresh routes for drug discovery.
‘For the first time, we can see how the genome’s control switches are physically arranged inside cells, said Professor James Davies, lead author of the study.
‘This changes our understanding of how genes work and how things go wrong in disease. We can now see how changes in the intricate structure of DNA leads to conditions like heart disease, autoimmune disorders and cancer.’
For more than two decades, scientists have known the full sequence of the human genome - the three billion “letters” of DNA that make up our genetic code. But exactly how that code folds and functions inside the cell has remained largely hidden.
Each cell’s DNA, about two metres long, is tightly packed into a microscopic space one-hundredth of a millimetre across. Within this space, the DNA constantly bends and loops, bringing distant sections into contact. These 3D structures are crucial because they determine which genes are active or silent, much like how a circuit board determines which switches are connected and which are not.
Until now, researchers could only view these interactions at relatively low resolution. The new Oxford method captures them down to a single base pair - the smallest unit of DNA - offering a truly molecular view of gene control.
Read the full story on the Radcliff Department of Medicine website.