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Yale scientists and a patient’s family join forces to find a cure

Online only Yale scientists and a patient’s family join forces to find a cure

Chloe Kiev, an otherwise perfect baby, was born with a troubling trait—a very loud heart murmur. It was so loud, in fact, that when a cardiologist did an echocardiogram he immediately recognized Chloe’s condition, which was later confirmed genetically. She has Williams syndrome.Williams syndrome, named for the New Zealand cardiologist who first reported it in 1961, is a rare genetic disorder that affects a child’s appearance, cognitive development, and physical health. A heterozygous deletion syndrome, it is caused by the absence of one copy of between 26 and 28 genes from the long arm of chromosome 7, resulting in cardiac, vascular,...

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A triathlete’s long road

Online only A triathlete’s long road

There was not a cloud in the sky on October 8, 2011, when Colleen Kelly Alexander hopped on her...

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Junk no more

Junk no more

R.I.P., junk DNA: not the DNA as such, but the moniker that has described it in a misleading...

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Yale’s Epic challenge

Yale’s Epic challenge

In early October, Gary E. Friedlaender, M.D., a specialist in musculoskeletal oncology who chairs...

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