Posts Tagged ‘genetics’

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May 11th, 2015

Prominent Harvard Cardiologist Moves to Google X to Head Large Study

Here’s a clear sign of the ascending role of digital/precision/personalized medicine: a prominent cardiologist has left a top academic and clinical position in Boston to run a large, innovative study in Silicon Valley. Jessica Mega was widely perceived as a rising star at Harvard Medical School and the Brigham and Women’s Hospital. She has now joined Google X, Google’s research arm, […]


May 7th, 2015

Advocates Say Precision Medicine Could Lead to Enormous Benefits

Personalized and precision medicine (PPM) could deliver hundreds of billions of dollars worth of improved health in the next 50 years in the United States, writes Victor Dzau, the new president of the Institute of Medicine, and coauthors in a Viewpoint published in the Lancet. The authors used a health simulation model to estimate the effect of […]


April 9th, 2015

Association Between Shorter Height and Heart Disease Largely Explained by Genes

The “well-established” link between shorter adult height and increased risk for coronary artery disease (CAD) is largely explained by height-associated genetic variants, researchers conclude in the New England Journal of Medicine. Using data from genome-wide association studies, the researchers examined the relationship between 180 height-associated genetic variants and CAD among 65,000 cases (adults with histories of […]


November 12th, 2014

Newly Identified Mutations Act Like a Lifetime of Treatment with Ezetimibe

A very large genetic study published in the New England Journal of Medicine offers compelling evidence in support of a central role for LDL cholesterol in coronary heart disease. In a series of studies analyzing blood samples from nearly 100,000 people, Sekar Kathiresan and colleagues identified 15 rare mutations that block the activity of a single gene — […]


September 30th, 2014

Genetic Analysis Fails to Support Vitamin D to Prevent Diabetes

A vitamin D pill can’t substitute for a healthy diet and sunshine, a new genetic study published in The Lancet Diabetes & Endocrinology suggests. In recent years many people have been seduced by observational studies that found low levels of vitamin D in people who developed type 2 diabetes. The new study instead suggests that the association […]


July 31st, 2014

What Does CRISPR’s Success Mean for Cholesterol Control?

CRISPR is a new technique for inactivating or editing specific genes. Developed in microorganisms, it also works in mammalian cells, including in vitro human cells and monkey embryos. About 10 years ago, a gene was identified that is critical to production of the LDL cholesterol receptor (LDL-R): PCSK9. Naturally occurring human mutations that enhance the effect […]


June 19th, 2014

Genetic Studies May Help Unravel the Triglyceride Problem

The precise role of triglycerides in heart disease has been very difficult to determine. To help untangle the knotty problem two research groups studied large populations and identified rare variations in a gene (APOC3) that encodes for apolipoprotein C3, which is known to increase triglyceride levels. In the first paper, published in the New England Journal […]


March 3rd, 2014

Case: Palpitations in a Young Runner with Lamin A/C Deficiency

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Anna Catino presents our latest case: A young, male, long-distance runner experiencing palpitations, who has lamin A/C deficiency and a family history of cardiac disease. How would you manage this patient?


November 25th, 2013

FDA Reprimands 23andMe, Grants Breakthrough Status to Factor Xa Inhibitor, and Approves Promus Premier Stent

It was a busy morning at the FDA. Three new FDA actions may be of considerable interest in the cardiology universe: FDA Halts 23andMe Personal Genome Test: The FDA sent a scathing letter to 23andMe ordering the company to stop selling its Personal Genome Service (PGS) test.  The FDA highlighted two cardiology-related uses of PGS as “particularly concerning,” including […]


September 2nd, 2013

What You See Is Not Always What You Get

The COMPARE trial results prompt Paddy Barrett to wonder: Should disease criteria in clinical trials rely more on molecular than on clinical features?