Artificial Intelligence Could Diagnose Rare Disorders Using Just a Photo of a Face

January 7, 2019

Science Magazine

• “Rare disorders often show up in someone’s appearance. Individuals with Noonan syndrome—a genetic condition that inhibits the body’s growth and development—can have wide-set eyes, for example, and those with Bain-type intellectual disability—caused by a mutated gene on the X chromosome—sport almond-shaped eyes and small chins (see above). Now, researchers have trained artificial intelligence to recognize these features, paving the way for early—and cheap—diagnoses. Scientists built a computer program, DeepGestalt, and trained it on a publicly available data set of more than 17,000 photos of patients affected by more than 200 rare disorders. The program then used deep learning to recognize which patterns of markers were linked to hundreds of different genetic syndromes.”

The article describes how artificial intelligence is revolutionizing the diagnosis of rare genetic disorders by analyzing facial features from a simple photograph. Using advanced algorithms, AI can detect subtle facial anomalies linked to specific genetic conditions, providing quicker and more accurate diagnoses than traditional methods. This innovative approach has the potential to significantly improve patient outcomes, especially for those with hard-to-diagnose disorders. By utilizing just a photo, healthcare providers can expedite the diagnostic process, leading to earlier interventions and better management of these conditions. This technology represents a major leap forward in the integration of AI in healthcare.