October 16, 2014

Oxford University researchers have developed a computer program that can diagnose rare genetic disorders in children simply by analysing regular photographs.

The program works by recognising certain characteristic facial structures that can be present with certain conditions, including Down’s syndrome, Teacher Collins, Progeria, Fragile X and Angelman syndrome. It combines computer vision and machine learning to scan pictures for similarities to a database of pictures of people with known conditions, and then returns matches ranked by likelihood.

One person in 17 has a genetic disorder, which can be difficult to diagnose. Between 30 and 40 percent of the 7,000 or so rare genetic disorders involve some change in the face and skull. Having a diagnosis can help parents understand the risks for other children and how likely a condition is to be passed on. It can also improve estimates of how the disease will progress or help identify which symptoms are caused by the genetic disorder and which relate to other conditions.

The system was developed by a team from the Department of Engineering Science including DPhil research student Quentin Ferry and Professor Andrew Zisserman. The team aimed to teach a computer to carry out the assessments of facial features that are traditionally carried out by clinical geneticists.

Read the complete research here.


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