3D Facial Images Could Reveal Genetic Answers

Alberta Children’s Hospital researchers are hoping to shorten the years-long search for answers faced by families

For families of children with rare genetic diseases, finding a definitive diagnosis can be a long, emotionally exhausting process. It’s a journey so common that families themselves have given it a name.

“The “diagnostic odyssey” was a term actually crafted by families,” says Dr. Francois Bernier, pediatric geneticist at the Alberta Children’s Hospital and Director of the Alberta Children’s Hospital Research Institute (ACHRI). “Unfortunately, it can often take many, many years.”

Those years without answers can mean missed opportunities to anticipate complications, begin treatment or connect with other families facing the same condition. “Early diagnosis is crucial,” Bernier says. “It’s the gateway to treatment, to prevention, to understanding, to acceptance in some sense, and to finding community.”

Now, researchers in Calgary are leading an international effort that could help shorten that journey — using something as simple as a picture of a child’s face.

ACHRI scientists have developed a machine-learning prototype that analyzes highly detailed three-dimensional (3D) facial images for subtle patterns associated with rare genetic syndromes. The technology correctly classified study participants as unaffected or having a syndrome in 96 per cent of cases and can generate a prioritized list of possible diagnoses for affected individuals.

The science is rooted in the fact that thousands of genes influence facial shape, explains Dr. Benedikt Hallgrimsson, Scientific Director of ACHRI. Some of those same genes are involved in disease, meaning genetic changes can leave subtle signatures in the face — often too subtle for the untrained eye.

Hallgrimsson and his research team have spent years building one of the world’s largest collections of 3D facial images for this work.

“We are definitely the leaders in this area of study,” he says. “We believe strongly in open science, and so we collaborate with clinicians, imaging scientists and data scientists from around the world.”

The technology is not intended to replace geneticists or genetic testing. Instead, it could give clinicians another tool to point them toward answers sooner — potentially reducing unnecessary and sometimes painful testing while improving access to specialized care.

And its potential may extend beyond diagnosis. Hallgrimsson says the team is exploring whether facial shape could also provide clues about how severely a genetic disease may affect a child. For many families, he notes, receiving a diagnosis is only the beginning. They still need answers about what lies ahead, including how much monitoring or treatment their child may require.

“We have lots of preliminary data now that shows there is a relationship for some diseases between the severity of the facial shape and the type and severity of the underlying disease,” Hallgrimsson says. “The goal is to develop facial shape not only as a diagnostic marker, but also as a biomarker of disease severity.”

Hallgrimsson also envisions a future where advances in smartphone imaging could make the technology available far beyond major medical centres, including rural and remote communities and countries with limited access to medical geneticists.

“It’s non-invasive. It’s just a picture. It’s no blood test, no pokes. Instead of waiting years for direction, you’re waiting literally minutes.”
— Dr. Francois Bernier, pediatric geneticist at the Alberta Children’s Hospital and Director of the Alberta Children’s Hospital Research Institute (ACHRI)

Turning that kind of bold idea into a tool that could change care for children around the world takes more than scientific ingenuity. It also takes a community willing to invest in possibility.

“For us, philanthropy is the engine of innovation,” Bernier says. “This is where philanthropists step up and really help us drive into spaces that we couldn’t without it.”

Hallgrimsson agrees. “Donors to the Alberta Children’s Hospital Foundation are a key enabler of ACHRI’s success.”

 

This story originally appeared in the Calgary Herald on September 5, 2026