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Gene variants that can cause sudden death mapped

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Gene variants that can cause sudden death mapped

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Using a high-throughput technique, an international collaboration led by Vanderbilt Health researchers has created a "map" of 1,757 genetic variations that can trigger a life-threatening heart rhythm disorder called long QT syndrome.

Their findings, published in the journal Circulation, may enable more precise diagnosis and treatment of a disorder that causes sudden death in about 3,500 people in the United States each year. Many are struck down in the prime of life.

"Our hope is that now that we have this map, we can find a broader set of people who have this disease and get them treated," said Vanderbilt Health geneticist Andrew Glazer, Ph.D., the paper's corresponding author. "With proper management, … you can really reduce the risk of sudden death."

Glazer, assistant professor of medicine in the Division of Genetic Medicine and Clinical Pharmacology, is the paper's co-senior author with Dan Roden, M.D., the Sam L. Clark, MD, Ph.D. Professor of Medicine and senior vice president for personalized medicine at Vanderbilt Health.

"It's becoming clear that using genetic information to care for patients will be an increasing part of the way we practice medicine," said Roden, who is internationally known for his research on arrhythmias and variability in drug responses.

"One of the barriers to that vision is sorting out which variants are especially dangerous and which can be ignored," he said.



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