3-D genetics face-off

No longer just a tool for gaming and security systems, 3D facial analysis technology has the potential to revolutionise the diagnosis and treatment of rare genetic disorders, which impact more than 300 million people globally.


The study, funded by Takeda Pharmaceutical Asia-Pacific Medical Affairs in Rare Diseases, will ensure clinicians at SingHealth, Singapore’s largest group of healthcare institutions, are trained to capture and analyse 3D facial images using Curtin University’s Cliniface software platform.

Cliniface and study clinical lead Professor Gareth Baynam, the Head of the Western Australian Register of Developmental Anomalies at King Edward Memorial Hospital, NMHS, said that after years trialling the new technology, they have produced demonstratable reference statistics of 3D facial norms.

“What we have been doing, as well as collecting information on people who have conditions, we collect information – that is 3D scans – on people who don’t have known conditions, if you like that reference range data. We’ve done that locally with both Aboriginal and non-Aboriginal people,” Prof Baynam said.

“So, for instance, we have a project supported by the Roy Hill Community Foundation in the Pilbara, called The Pilbara Faces, in which we’ve been building a reference range of Pilbara data, so that its more equitable and accessible to help with care closer to home.”

The team has been conducting specific research on Hereditary Angioedema (HAE), a rare disease that affects one in 50,000 people that is characterised by severe and sometimes life-threatening episodic swelling, mainly of the face and upper torso.

Currently, only subjective clinical descriptions of the nature of facial swelling in people with HAE exist and giving clinicians an objective understanding of the facial swelling will help assess the onset of an attack, its severity, recovery and treatment, potentially assisting with the initial diagnoses and improving management outcomes.

“About a third of some 8000 rare diseases are known to have some sort of facial clues, some sort of facial signature – often really subtle, not something that you would look at a person and immediately notice,” Prof Baynam said.

“So potentially, for that third, which is thousands of diseases out of the 8000, this technology could help, both from the perspective of trying to improve diagnosis, but also in trying to improve how we monitor the response to certain therapies, or how we perform clinical trials.”

“The way that we have built the software means that we can partner internationally,” he explained.

“And we do it in such a way that the actual data, in terms of the individual scans, all stay in those places: what actually ends up being shared is fundamentally a series of growth charts for essential facial measurements that have been generated, which means that people can really do this on a global scale.”

Computer scientist Dr Richard Palmer, from Curtin University’s School of Earth and Planetary Sciences, who developed the Cliniface technology, said that in the upcoming study the 3D facial images of 900 Singaporeans would be processed through the Cliniface platform, extracting more than 50 facial measurements from each image.

“The resulting de-identified data will be transmitted from SingHealth to the Cliniface team at Curtin University for analysis, allowing us to generate modelling that outlines facial features specific to the Singapore population,” Dr Palmer said.

“By working together, we will expand our understanding of the facial features of this rare genetic disorder with the ultimate aim of potentially making it easier for clinicians to treat patients and ultimately improve the lives of people living with HAE.”