3D Analysis of Facial Features May Help Treat, Diagnose HAE

Somi Igbene, PhD avatar

by Somi Igbene, PhD |

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Scientists in Australia and Singapore are teaming up to investigate the usefulness of Cliniface, a 3D face analysis technology, to diagnose, treat, and manage patients with hereditary angioedema (HAE).

The partnership, a collaboration between Takeda Global, SingHealth in Singapore, King Edward Memorial Hospital in Western Australia, Curtin University, and FrontierSI, will let researchers analyze the facial features of HAE patients across Singapore and Western Australia and use that data to help diagnose and treat the disease.

“It was our great pleasure and excitement for our first implementation of innovative digital 3D facial analytics in Asia-Pacific region. The advancement of technology enables us to identify the distinctive features of a multi-ethnic population, which seeks to envision our patients and community of rare and complex genetic disorders with our core principle of patient-centricity,” Dae Wook Lee, head of medical portfolio management at Takeda Asia Pacific, said in a press release.

“The agreement clearly displays a strong foundational and remarkable cross-border multi-national partnership between FrontierSI and SingHealth, which is only the beginning to undoubtedly larger accessibility to medical professionals treating rare and complex diseases with emerging trends of digitalisation in healthcare,” Lee added.

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About a third of rare diseases, including HAE, cause subtle changes in facial features that can aid in their diagnosis. However, diagnosing patients via facial features can be difficult, requiring expertise and experience.

Cliniface is a new software that can automatically measure, detect and classify unusual facial features based on standards like those found in the Human Phenotype Ontology (HPO), which offers a vocabulary of physical abnormalities encountered in human disease. Using the software, operators can capture subtle facial abnormalities and export the results in text format to other platforms that scientists can use to aid diagnosis and start early treatment.

Cliniface could help physicians objectively understand the nature of facial swelling that characterizes HAE, which could help assess the onset of a potential swelling attack, its severity, recovery, and treatment. In addition to its usefulness in managing HAE attacks, the technology is also expected to help diagnose the disease.

“We have been working diligently with our partners Curtin University and WA’s [Western Australia’s] North Metropolitan Health Service (NMHS) to develop the Cliniface platform to deliver an equitable and accessible digital health solution and this ground-breaking research will ensure translation into clinical practice,” Graeme Kernich, PhD, FrontierSI’s CEO, said.

The research collaboration will teach clinicians at SingHealth’s specialist hospital, KK Women’s and Children’s Hospital (KKH), how to use Cliniface to capture and evaluate 3D facial images. Adopting the technology could offer more options for treating and managing HAE for children in Singapore, and lead to better outcomes.

“As the first hospital in Singapore to adopt this, we are extending the vision KKH has set out 30 years ago to improve diagnostics with therapeutic options and outcomes for patients who have very rare conditions. If we can achieve these earlier in a patient’s childhood, they and their family can enjoy a far better quality of life,” said Saumya Jamuar, senior consultant of genetics service at KKH and head of SingHealth Duke-NUS Genomic Medicine Center.

Clinicians at SingHealth plan to capture and process 3D facial images from 900 individuals. The images will be transferred to the Cliniface team in Australia, which will extract more than 50 facial measurements from each image to develop reference models of features that define Singapore natives. Using these models, the team hopes to easily detect facial abnormalities that may help diagnose HAE.

“After years of trials using our Cliniface technology to demonstrate that we can produce reference statistics of 3D facial norms, we will expand this to include the Singapore population to support more advanced, accessible and equitable diagnosis and monitoring of rare diseases in our Asia Pacific region,” said Gareth Baynam, PhD, head of the Western Australian Register of Developmental Anomalies at King Edward Memorial Hospital, and Cliniface’s lead.

“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,” added Richard Palmer, PhD, a computer scientist at Curtin University School of Earth and Planetary Sciences who developed the Cliniface technology.

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