Algorithm to provide certainty with diagnosis of disorders

The researchers have developed 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 computer vision and machine learning, the algorithm learns what facial features to pay attention to and what to ignore from a growing bank of photographs of people diagnosed with different syndromes.

The researchers report their findings in the journal eLife. The study was funded by the Medical Research Council (MRC), the Wellcome Trust, the National Institute for Health Research, Oxford Biomedical Research Centre, and the European Research Council.

‘A diagnosis of a rare genetic disorder 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 Nellåker of the MRC Functional Genomics Unit at Oxford University. ‘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.’