AI face-scanning app spots signs of rare genetic disorders

Researchers are improving the ability of algorithms to help spot the physical characteristics of conditions such as Cornelia de Lange syndrome.Credit: Michael Ares/The Palm Beach Post via ZUMA A deep-learning algorithm is helping doctors and researchers to pinpoint a range of rare genetic disorders by analysing pictures of people's faces. In a paper1 published on 7 January in Nature Medicine, researchers describe the technology behind the diagnostic aid, a smartphone app called Face2Gene. It relies on machine-learning algorithms and brain-like neural networks to classify distinctive facial features in photos of people with congenital and neurodevelopmental disorders. Using the patterns that it infers from the pictures, the model homes in on possible diagnoses and provides a list of likely options. Doctors have been using the technology as an aid, even though it's not intended to provide definitive diagnoses.