Computer-aided photo analysis ‘can aid genetic disorder diagnosis’

Scientists from the University of Oxford have created a computer programme that could be used to diagnose rare genetic disorders by analysing photographs.

The algorithm utilises the latest advances in computer vision and machine learning to teach itself what facial features to pay attention to and what to ignore from a growing bank of photographs of people diagnosed with different syndromes.

In doing so, it will be possible to find similarities in facial structures that are indicative of various conditions – such as Down's syndrome, Angelman syndrome or progeria – and returns possible matches ranked by likelihood.

The programme is able to account for variations in lighting, image quality, background, pose, facial expression and identity, building a description of the face structure by identifying corners of the eyes, nose, mouth and other features.

Lead researcher Dr Christoffer Nellaker, of the MRC Functional Genomics Unit at the University of Oxford, said: "A doctor should in future, anywhere in the world, be able to take a smartphone picture of a patient and run the computer analysis to quickly find out which genetic disorder the person might have."

There are currently more than 6,000 diagnosed genetic disorders, affecting around one in 25 children.