We work on children's skin disorders, finding the causes, and designing new treatments.
Most of these conditions involve serious birthmarks, and most have a predisposition to cancer as well. Although these diseases are individually rare, they are collectively common, affecting around 1% of the population. As these disorders can happen without warning to any family around the globe, and are not picked up on screening in pregnancy, they are usually a major shock to families.
Our research looks for the causes of the diseases using advanced genetic techniques, and the cause is often found to be a mistake in a cancer gene arising in the womb. We then model the diseases in the lab to allow us to identify treatments. These treatments are being designed very specifically to target the individual diseases, and even individual patients. During this process, we are also able to learn important new facts about cancers in the general population, and about normal human development in the womb.