Learning to Defuse the Aorta

losartanWhen Dr. Hal Dietz arrived at Johns Hopkins University in the 1980s, he became obsessed with helping children with Marfan syndrome, a rare and often fatal disorder that can cause the aorta, the large blood vessel that carries blood from the heart, to grow and grow until it bursts.

“Nothing we were doing seemed to make a difference in their lives,” he said.

These doomed children had a distinctive look that clearly had a genetic basis. They were typically very tall and thin, with long arms, legs and fingers. They often had unusually flexible joints, flat feet and teeth that were crowded in their mouth.

“I decided to study genetics with the sole incentive to identify the gene for Marfan syndrome and ultimately to understand the mechanism,” said Dr. Dietz, now director of the William S. Smilow Center for Marfan Syndrome Research at Johns Hopkins.

That journey has led to surprising discoveries about Marfan’s causes and a soon-to-be published clinical trial of a drug that may help its sufferers.

Dr. Dietz’s work also inspired research that may lead to a blood test that detects enlarged aortas, potentially saving thousands of lives, even among those who do not have Marfan syndrome.

Read More: The New York Times

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