Berlin: To efficiently and reliably diagnose rare diseases, scientists have now developed an artificial intelligence system that uses portrait photos in combination with genetic and patient data.
In a recent study published in the journal Genetics in Medicine, scientists from the University of Bonn and the Charite – Universitatsmedizin Berlin in German used data of about 679 patients with 105 different diseases caused by the change in a single gene.
The common factor among all these diseases was that the facial features of those affected show abnormalities.
This is particularly characteristic, for example, of Kabuki syndrome, which is reminiscent of the make-up of a traditional Japanese form of theatre. The eyebrows are arched, the eye-distance is wide and the spaces between the eyelids are long.
Researchers showed how artificial intelligence can be used to make comparatively quick and reliable diagnoses in facial analysis.
The used software can automatically detect these characteristic features from a photo and automatically combines portrait photos with genetic and patient data.
Together with the clinical symptoms of the patients and genetic data, it is possible to calculate with high accuracy which disease is most likely to be involved.
The scientists trained this computer program with around 30,000 portrait pictures of people affected by rare syndromal diseases.
“In combination with facial analysis, it is possible to filter out the decisive genetic factors and prioritize genes,” said Peter Krawitz from the University Hospital Bonn (UKB).
“Merging data in the neuronal network reduces data analysis time and leads to a higher rate of diagnosis,” he added.
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 fact many patients with rare diseases go through lengthy trials and tribulations until they are correctly diagnosed.
PTI