There hasn’t been a major breakthrough in the treatment of heart disease since the 1970s, when two University of Texas Southwestern Medical Center scientists discovered the low-density lipoprotein (LDL) receptor, which controls the level of cholesterol in the blood and in cells. Their discovery led to the development of statins, which are now used daily by millions of people to help reduce the effect of the accumulation of harmful fats in the circulatory system that causes heart disease. 

But while the LDL discovery has had a tremendous impact on extending human life (not to mention earning the two scientists, Dr. Michael Brown and Dr. Joseph Goldstein, a Nobel Prize), what has remained elusive — perhaps constrained to the realm of medical science fiction — is an outright cure for heart disease. After all, how do you cure a condition that’s caused gradually, over a lifetime? Could it be prevented from ever forming?

At the time a young medical doctor named Helen Hobbs began working in Brown and Goldstein’s molecular genetics lab at UT Southwestern in the 1980s, the best answers doctors had for the prevention of heart disease were behavioral: Don’t smoke; watch your diet; avoid fatty foods and food containing large amounts of bad cholesterol; exercise regularly and take statins. It was not clear what role blood cholesterol levels had relative to other risk factors in the development of heart disease. This was a question that Hobbs answered.

In 2003, a geneticist in France found a genetic connection between families with high rates of heart disease and a newly identified gene called PCSK9. For Hobbs, the timing of the PCSK9 discovery was serendipitous. In 1999, she and her research partner at UT Southwestern, Dr. Jonathan Cohen, along with Dr. Ronald Victor, had launched a study to create detailed physiological profiles of 3,500 individuals living in the Dallas area in an attempt to create a searchable, sortable database of a wide variety of medical phenotypes.