14 July 2016

Images more than face value for rare disease project

Goldfields schoolgirl Isabella Tucker made an important contribution to medical science when she fronted cameras for a special photo shoot in Kalgoorlie recently.

The 11-year-old had a three-dimensional photograph of her face taken as part of a WA Health project that could one day revolutionise the way rare diseases are diagnosed.

Izabella was among 70 East Kalgoorlie Primary School students, aged from four to 11, who took part in the project.

The children’s participation in the project will help ensure that Aboriginal people can benefit from technology, currently in development, that may one day enable doctors to diagnose patients with rare diseases simply by snapping a 3-D shot of their face. This same technology will also enable doctors to monitor a patient’s response to drugs and other treatments.

Rare diseases are conditions, usually genetic in origin, that affect fewer than one in 2000 people. They can be extremely difficult to diagnose because most doctors will never come across sufficient cases to gain the experience 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.

Lyn Schofield, a member of the research team who visited the Goldfields to capture the images, said the children were wonderful to work with and seemed to delight in being able to view and manipulate their 3-D faces on screen.

“They especially loved being able to turn their faces upside down to look up their noses!” she said.

The facial imaging project is being led by Perth clinical geneticist Gareth Baynam who is using the images to identify subtle variations in facial contours (often imperceptible to the naked eye) that can be the markers of a particular rare disease.

To distinguish these variations the researchers have been scanning the faces of people 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.

As the parameters of normal facial contours can vary with ethnicity, the team must compile reference scans for different ethnic groups.

Dr Baynam needs more Aboriginal scans to ensure that Aboriginal people are adequately represented.

The recent trip, the researchers’ second to the Goldfields, brings to almost 120 the number of Aboriginal faces on their database.

Ms Schofield said she was very grateful to senior Wongutha woman and fellow health researcher, Annette Stokes, without whom the recent imaging work would not have been possible.


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