AI Diagnoses Genetic Syndromes Just From Patients' Pictures - D-brief

An algorithm is able to identify genetic syndromes in patients more accurately than doctors can -- just by looking at a picture of a patient's face. The results suggest AI could help diagnosis rare disorders. "This is a long-awaited breakthrough in medical genetics that has finally come to fruition," Karen Gripp, a medical geneticist at the Nemours Alfred I. duPont Hospital for Children in Wilmington, Delaware and co-author of the new paper, said in a statement. "With this study, we've shown that adding an automated facial analysis framework … to the clinical workflow can help achieve earlier diagnosis and treatment and promise an improved quality of life." Severe genetic syndromes affect about six percent of children born globally.