New tool to ID Disease-Causing Genetic Changes

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When Shayla Haddock’s doctors tested her for a rare genetic disease in 2012, they couldn’t pinpoint a diagnosis. Her lifelong symptoms — which include club feet, short stature, unusual facial features and congenital deafness — led her doctors to suspect a disease-causing gene mutation. But for children like Shayla, finding the culprit among 3 billion base pairs of DNA can be very difficult.