The revolutionary field of facial scanning is shedding light on the diagnosis of rare diseases. Curtin University in Western Australia, in collaboration with local healthcare cluster SingHealth, is utilizing the cutting-edge Cliniface, a 3D facial analysis software developed by Curtin researchers.
By harnessing the power of 3D cameras and comparing over 50 facial measurements, this open-source platform can detect traits related to rare diseases, potentially transforming healthcare diagnostics.
Analyzing Hereditary Angioedema (HAE)
One such study employing Cliniface focuses on hereditary angioedema (HAE), a genetic disorder characterized by severe swelling of the face and upper torso. HAE affects approximately one in 50,000 people worldwide, with symptoms typically emerging during adolescence.
Though most cases of swelling resolve within days, airway swelling can be fatal, requiring regular medication to maintain normalcy. Dr. Tan Sze-Chin, a senior consultant at Tan Tock Seng Hospital, emphasized the necessity of medication for patients to lead ordinary lives.
Tailored Therapy for Children with HAE
Image from Cliniface
KK Women’s and Children’s Hospital (KKH), under SingHealth, will integrate this technology to offer more targeted therapy to children diagnosed with HAE. Remarkably, around one-third of rare genetic diseases manifest facial characteristics, making facial scanning a valuable tool for early detection.
Richard Palmer, the lead software developer for Cliniface, highlights the superiority of 3D photographs over traditional 2D scans, as the former eliminates perspective distortion and enhances accuracy.
Aiding Doctors in Identifying Disorders
Image from Cliniface
Although facial scanning technology does not replace doctors, it acts as a valuable triaging tool, aiding medical professionals in better assessing a patient’s condition.
Dr. Saumya Jamuar, a senior consultant from KKH’s genetics service, praises Cliniface for identifying markers that human observation might overlook. The software’s database, currently focused on Caucasian faces, will benefit from Curtin University’s collaboration to provide references for “normal” Asian faces, facilitating more accurate assessments for individuals with disorders.
Beyond HAE: Uncovering Other Disorders
The versatility of Cliniface extends beyond HAE. Dr. Jamuar recounts instances where the software detected a blueish tint in a child’s eye, indicating possible brittle bone disease. Additionally, it has proven effective in scanning for foetal alcohol spectrum disorder, a condition caused by alcohol passing from a pregnant mother’s bloodstream to her baby, resulting in various developmental issues.
Takeda’s Support for Groundbreaking Research
Supported by Japanese pharmaceutical giant Takeda, the research commenced last year with a goal of studying the facial features of 900 children below the age of 18 from diverse ethnic backgrounds. To date, 750 participants have been recruited, with less than 2 percent diagnosed with HAE. This pioneering initiative aims to shorten the diagnostic odyssey faced by individuals with rare diseases, which often lasts up to eight years due to misdiagnoses.
Towards Widespread Implementation
Dr. Palmer envisions a future where Cliniface becomes widely available in hospitals and becomes a standard part of patients’ screening processes. By accurately diagnosing rare diseases, healthcare professionals can administer targeted treatments, vastly improving patients’ quality of life. Dr. Jamuar highlights that precise diagnoses enable more effective treatments, offering hope to individuals on their diagnostic journey.
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