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.

Read more about Investing in Research
You can bring hope to a child with cancer

Walking into the Emergency Department at the Perth Children’s Hospital with their sick two-year-old daughter Amelia, Brianna and Russell felt…

More
WA first international hub for Human Vaccines Project

Thanks to a joint partnership with Telethon Kids Institute, Perth Children’s Hospital Foundation will be at the forefront of a…

More
Helping kids with eczema

Flynn spent the first 18 months of life living with atopic eczema.  His tiny body was covered in angry, red…

More
Your support is helping kids like Romeo

With one jump, Romeo’s life changed forever.   Late last year Romeo and his twin sister Isabelle were enjoying a…

More
Making a Big Splash for mental health

Mental health is one of the three most important issues for young Western Australians.   Compared to five years ago,…

More
Next Steps Project

Every 15 hours, an Australian child is born with Cerebral Palsy. Thanks to the generosity of Perth Children’s Hospital Foundation donors,…

More