Changes in our DNA, called “mutations”, cause some people to get autoimmune diseases. However, exactly which mutations are responsible, and how these lead to disease, is unknown. We are studying a region of DNA that has been linked to several diseases, including Crohn’s disease and ulcerative colitis. We think this region controls inflammation in immune cells. We also think we know which mutation is responsible.
To see if we are right, we would like to do two experiments. First, we will introduce this mutation into blood cells from healthy people who do not carry it. We expect this will cause a nearby disease gene to turn on. Second, we will see whether patients with this mutation get worse inflammation than those without it. We hope to learn what goes wrong to cause these diseases. This may help us find better treatments.
