New Tool To ID Disease-causing Genetic Changes Developed At Stanford

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. Each case takes 20 to 40 hours of analysis by a trained geneticist after gene sequencing has been done, and around 75 percent of patients don't get a diagnosis on the first try. As I described in a recent story, Shayla's case was eventually solved by a team of Stanford computer scientists who devised an automated way to compare patients' symptoms and mutated genes to information in existing databases of genetic diseases.