Helen H. Hobbs

Helen Hobbs uses human genetics to elucidate key pathways in cholesterol and lipoprotein metabolism. Her major contributions include the discovery of the molecular basis of sitosterolemia (ABCG5 or ABCG8), of autosomal recessive hypercholesterolemia (ARH), and of dominant hypocholesterolemia (PCSK9). She documented that sequence variations that are individually rare and of major effect collectively contribute significantly to variability in a variety of metabolic traits in humans. She has provided genetic data confirming the primacy of LDL levels in coronary atherosclerotic risk. Most recently she discovered that genetic variation in PNPLA3 contributes to hepatic steatosis and liver injury.