London: Oxford scientists have developed a new face-recognition software that can help diagnose extremely rare genetic conditions in children from family photographs. The computer programme 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 what facial features to pay attention to and what to ignore from a growing bank of photographs of people diagnosed with different syndromes.
While genetic disorders are each individually rare, collectively these conditions are thought to affect one out of 17 people. Of these, a third may have symptoms that greatly reduce quality of life. However, most people fail to receive a genetic diagnosis.
“A diagnosis of a rare genetic disorder can be a very important step. It can provide parents with some certainty and help with genetic counselling on risks for other children or how likely a condition is to be passed on,” said lead researcher Dr Christoffer Nellaker of the MRC Func-tional Genomics Unit at the University of Oxford.
“A diagnosis can also improve estimates of how the disease might progress, or show which symptoms are caused by the genetic disorder and which are caused by other clinical issues that can be treated,” said Nellaker.
