New Study Helps Decode Inherited Heart Disease

Two weeks ago President Barack Obama gave his State of the Union Address where he unveiled his Precision Medicine Initiative, which relies on genomics to “deliver the right treatment at the right time.” While NAG’s focus has been to deliver genomic medicine to physicians and patients around the country, we delight in the growing support of this mission. The influx of government funding for genomics research is yielding great gains for personalized medicine. A prime example that caused a stir in genetics and cardiology two weeks ago: newly published findings identifying key gene mutations underlying inherited heart disease.


Dilated cardiomyopathy (DCM) affects roughly 1 in 250 people. It causes the heart muscle to become thin and weak, often leading to heart failure. The most common cause of the disease is mutations in the muscle protein gene, “titin”, that make the protein shorter. But truncations in the gene are very common – 1 in 50 individuals have one – and most of them are not harmful so it has proven quite difficult to accurately gauge disease risk based on these variants.

In this new study, researchers sequenced the titin gene in over 5,000 people, both individuals with and without the disorder, and correlated the results with levels of titin in samples of heart tissue. Their results defined a comprehensive list of mutations in the titin gene, highlighting which of these are associated with dilated cardiomyopathy and mutations are harmless.

These findings are extremely valuable for heart disease diagnosis and more precise risk assessment today, and opens the door for future research into new therapies and cures tomorrow. At New Amsterdam Genomics, we use our up-to-date databases of well-characterized variations to screen patients and identify those at risk of developing diseases like DCM. Understanding risk in a thorough way enables our physicians to manage these conditions earlier than previously possible, the kind of insight that can save lives. These monumental research advances highlight how precision medicine is materializing into reality today. NAG leads the way toward this future where every patient is treated like an individual and the latest science is directly brought into the clinic to improve their care.


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