Insights into metabolic health and disease from human genetic variants with major functional impact


  • Prof sir Stephen O'Rahilly

    University of Cambridge

Project summary

How the body handles its main sources of energy (carbohydrates, fats and proteins) is key to maintaining health. This job is shared between organs such as the liver, muscle and fat and is coordinated by hormonal signals such as insulin. Diabetes and heart disease occur when these systems malfunction. 

We have learned a lot about how insulin works through studying humans who carry genetic mutations that interfere with its action. We will build on this, by taking a broader look at the way the body handles its metabolic pathways and how they can go wrong in a variety of diseases. 

Our research findings can be used to improve patient care for a broad range of disease.