New agreement uses 3D technology to help treat rare genetic disorder

Perth nurse Emily Wheeler, aged 23, lives with HAE and is taking part in the research project in the hope it will help others receive a quicker diagnosis in the future. 'If I can help one person by telling my story, I think that's an achievement - if someone hears this and thinks 'I have those symptoms' or a doctor ticks a box of symptoms and it points to HAE, I just think that would be amazing,' she said. Researchers will use 3D facial analysis technology to help understand and eventually guide the treatment of a rare genetic disorder that affects one in 50,000 people as the result of a new agreement. The agreement, between Takeda Global, SingHealth in Singapore, WA's King Edward Memorial Hospital, Curtin University and FrontierSI, will advance diagnosis and treatment monitoring for rare diseases, which globally impact more than 300 million people. The study, funded by Takeda Pharmaceutical Asia-Pacific Medical Affairs in Rare Diseases, will enable researchers to analyse the facial features of Hereditary Angioedema (HAE), a rare genetic disorder characterised by severe and sometimes life-threatening episodic swelling mainly of the face and upper torso, across Singapore and Western Australia. It 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. As a specialist hospital under SingHealth, KK Women's and Children's Hospital (KKH) will be adopting the technology to provide more targeted therapies and improve management outcomes among children diagnosed with HAE.