Broad in the news: New York Times covers landmark heart disease study by Broad researchers and colleagues

Haley Bridger, June 27th, 2014 | Filed under
  • Sekar Kathiresan.
    Photo by Nick Dua, Broad Institute

By scouring the DNA of thousands of patients, researchers at the Broad Institute and Massachusetts General Hospital and their colleagues have discovered four rare mutations in the gene APOC3 that lower triglycerides and reduce a person’s risk of coronary heart disease — dropping it by 40 percent.

Last week, the Broad Institute announced these important findings in a press release, and coverage of the study has appeared in The New York Times, The Boston Globe, Forbes, The CBS Morning Show, and more. You can also listen to Sekar Kathiresan, a Broad Institute associate member and director of preventive cardiology at Massachusetts General Hospital, discuss the results on “Here and Now” and on “ To the Point.”

The protective mutations in APOC3 the researchers uncovered are rare in the general population – about one in 150 people in the United States carry one of these mutations – but interestingly, the mutations are found at a much higher rate in the Lancaster Amish (about one in 20 people).

Protective mutations like the ones found in APOC3 suggest a powerful strategy for developing new drugs. Kathiresan tells Here and Now’s host, Robin Young,

“The latest concept in terms of human genetics and drug discovery is to develop medicine that mimics the natural success of the human genome. Here’s a situation where we found a subset of individuals who, because of a mutation that breaks the gene, actually are naturally protected against the risk of heart attack. So this really is an experiment of nature, and it teaches us that if we’re able to mimic that mutation — let’s say with the medicine — that we would have a good shot at actually reducing risk of heart attack.”

[Quoted text first appeared on WBUR’s Here and Now]

Kathiresan and his colleagues published a paper detailing their findings in the New England Journal of Medicine. A team of researchers from Denmark published a second paper in the journal, reporting the same findings, helping confirm and validate the discovery.