DNA strands (Getty)
  • Researchers at the University of Pretoria are trying to map facial markers of genetic conditions, such as Down syndrome, for African populations.
  • Historically, international research has focused on European populations, and there is little local data.
  • If untreated and unrecognised, children can die of these conditions

In her laboratory at the University of Pretoria, researcher Vinet Coetzee is taking 3D images of children’s faces. She is creating a database of facial variation to help doctors diagnose genetic conditions, such as Down syndrome.

“We have 10 separate cameras that take a photo of you from different angles at exactly the same time, and then we can use that to make a 3D image of your face,” says Coetzee, whose research focuses on non-invasive health tests.

Dr Vinet Coetzee (Photo: University of Pretoria)

There are about 700 genetic conditions that can be recognised in the face, but there is little data for African populations, she says. A lack of awareness means that cases are undiagnosed - which can be fatal.

For example, a 1997 South African Medical Journal study found that Down syndrome is significantly under-reported in black children in South Africa. This is often because hospital staff do not recognise the physical markers of the disease, which can be vary between different groups. People with Down syndrome have an extra copy of chromosome 21, which can cause developmental problems, and about 50% of babies with Down syndrome have a congenital heart defect.

In South Africa, it is estimated that Down syndrome affects one in every 500 live births.

In order for them to receive the necessary treatment, the condition needs to be identified first.

“Unfortunately, many children only get diagnosed much later, which is a  huge problem because there are certain medical procedures that need to happen before then,” Coetzee says.

Currently, her work focuses on Down syndrome, but she aims to expand this to other genetic conditions in the next decade.

The research includes include both children with genetic conditions and those without.

By training computer algorithms to recognise the features of an array of genetic conditions in different populations, she hopes that this research will help doctors to diagnose these diseases in South Africa’s populations.

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