AI tool detects rare diseases from portraits, health data

Updated: few hours ago

Berlin, Jun 10 (PTI) Scientists have developed an artificial intelligence system that uses portrait photos in combination with genetic and patient data to efficiently and reliably diagnose rare diseases.

Every year, around half a million children worldwide are born with a rare hereditary disease. Obtaining a definitive diagnosis can be difficult and time consuming.

In a study of 679 patients with 105 different rare diseases, scientists from the University of Bonn and the Charite - Universitatsmedizin Berlin in Germany have shown that artificial intelligence can be used to diagnose such diseases.

The neural network, described in the journal Genetics in Medicine, automatically combines portrait photos with genetic and patient data.