Studying the face to help diagnose rare diseases

Rare diseases are conditions, usually genetic in origin, that affect fewer than one in 2,000 people.

They can be extremely difficult to diagnose as most doctors will never come across enough cases to gain the experience needed to recognise them.

As a result, people with rare diseases can go years without a diagnosis, missing the chance to access potentially life-changing treatments and management.

Technology is currently being developed that may one day enable doctors to diagnose patients with rare diseases by simply taking a 3D image of their face. This same technology will also enable doctors to monitor a patient’s response to drugs and other treatments to see if it is working.

Dr Gareth Baynam

Dr Gareth Baynam is leading the research team.

A Facial Imaging project, led by clinical geneticist Dr Gareth Baynam, is building a database of children’s faces to identify subtle differences in facial shapes (which are often invisible to the naked eye) that can be the markers of a particular rare disease.

To distinguish these variations, researchers have been scanning the faces of children with and without diagnosed conditions and comparing facial composites derived from these original scans.

The composites are created using data collated from measurements taken at, and between, various points on the face. The more scans collected, the more precise the resulting data – and ultimately the more effective the team’s final application. So it is important for the team to take images of as many different children as possible.

As the structure of normal facial contours can vary with ethnicity, the team must compile reference scans for different ethnic groups. One group that has so far been under-represented is Aboriginal children.

The Foundation provided a grant to Dr Baynam and his team to enable them to visit Aboriginal communities to build on their database of images by taking lots of pictures of children in these remote communities.

This will ensure that aboriginal children have access to this same ground-breaking technology that could help diagnose rare diseases now and well into the future.

Pictured above: 11 year old Isabella who has had her face scanned as part of the project.

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