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Studying faces to treat rare genetic disorders

Could rare diseases be identified and treated by studying facial images? This news headline in a local paper piqued my interest.

As a doctor, I had heard of cases where patients' faces and upper torsos would swell up like a balloon. Episodes happened unpredictably; sometimes blocking the airways, which could be fatal. This rare disease, hereditary angioedema (HAE), affects one in 50,000 people worldwide, the article said. In Singapore, there are currently around 25 HAE patients. HAE is difficult to diagnose, with patients often taking multiple years before they are diagnosed.

Imagine being able to diagnose HAE with the help of modern cameras, which use 3D facial analysis technology to study one's face! This astounding technology, known as the Cliniface software, can potentially help clinicians to rapidly detect disease traits and accurately assess the onset of a HAE attack from an analysis of more than 50 different facial measurements.

A team of researchers from Singapore is using Cliniface to study the facial characteristics of 900 children of different ethnicities. The study findings will form a database of facial characteristics specific to the Asian population, which doctors can use to tell apart facial features of patients with HAE and the general population.

This SingHealth team, led by KKH Genetics Service Senior Consultant Dr Saumya Jamuar and researchers from the KKH Allergy Service, SGH, TTSH and National University Health Systems, is collaborating with regional partners including King Edward Memorial Hospital in Australia, Curtin University and FrontierSI to expand the existing database that is largely of Caucasian facial characteristics.

With this technology, doctors can reach a diagnosis faster, provide targeted treatment and improve management outcomes of more children and adults suffering from HAE around the world.

Studying faces to treat rare genetic disorders

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