Up to 40,00 Czechs live with familial hypercholesterolaemia, which causes a dramatic increase in the level of harmful LDL cholesterol in the blood. It can shorten their lives by decades. Without treatment, patients are at risk of a heart attack in their third or fourth decade of life. However, many patients are unaware of their disease. The genetic basis and early diagnosis of the disease have long been the focus of Professor Tomas Freiberger, the principal investigator for MU at the National Institute for Metabolic and Cardiovascular Disease Research CarDia. He is also involved in the European project FH-EARLY, which aims at early detection of this genetic disease.