(7 July 2014) Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, reports the Wellcome Trust.
Oxford University researchers funded by the Wellcome Trust, MRC and NIHR, have come up with a computer programme that recognises facial features in photographs; looks for similarities with facial structures for various conditions, such as Down’s syndrome, Angelman syndrome, or Progeria; and returns possible matches ranked by likelihood.
Using the latest in computer vision and machine learning, the algorithm increasingly learns which facial features to pay attention to and what to ignore from a growing bank of photographs of people diagnosed with different syndromes. The research is published in eLife.
While genetic disorders are each individually rare, collectively these conditions are thought to affect 1 person in 17. Of these, a third may have symptoms that greatly reduce quality of life.
“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,” says Dr Christoffer Nellåker, an author of the study.
“This objective approach could help narrow the possible diagnoses, make comparisons easier and allow doctors to come to a conclusion with more certainty.”
Read the announcement here.