Unravelling the mysteries behind undiagnosed intellectual disabilities in children might be a step closer thanks to a first-of-its-kind web platform launched today at the Hunter Medical Research Institute (HMRI).
Rare genetic conditions are notoriously difficult to diagnose, leaving many parents frustrated by a lack of answers. But with 30-50% of these children having facial features which provide a clue to diagnosis, clinicians are now hoping to crack the code and make earlier detections.
Dr Tracy Dudding-Byth, a senior geneticist and Hunter New England Health Clinical Research Fellow, and Professor Brian Lovell from the University of Queensland, are using an algorithm that matches common facial traits across ethnicity, age and gender to help match up undiagnosed patients with intellectual disability.
Dr Dudding-Byth’s new FaceMatch project applies a novel and vital medical use for technology normally employed by policing and security agencies.
“I came up with this idea after watching an episode of ABC’s Catalyst on the use of face-matching technology in the passport office,” Dr Dudding-Byth explains. “That’s when I realised this kind of software could be used to match children with undiagnosed intellectual disabilities.”
The Newcastle Permanent Charitable Foundation provided a grant of $143,500 to enable HMRI technicians to build the interactive FaceMatch resource. From today, parents can work with their doctor and clinical geneticists to upload a photograph and description of their child, in the hope of matching with another child somewhere in the world.
Parents of children with known genetic conditions can also participate to help refine the algorithm.
Newcastle Permanent Charitable Foundation’s Chair, Phil Neat, said that it was a pleasure to support a world-class research institute with funding for this innovative project.
“The Foundation exists to help people who are disadvantaged or marginalised. This project will provide direct support to families who are currently unable to obtain an accurate diagnosis for their child’s intellectual disability,” Mr Neat said.
“We are proud to invest in this ground-breaking technology which will ultimately lead to better health outcomes for our local communities but also has the potential to positively impact communities around the world.”
Clinicians traditionally rely on manual forms of face matching by passing around patient photographs at conferences, but FaceMatch eliminates human error, fatigue and delays. Once a match is made, DNA can be collected from each patient and analysed for common traits.
“The DNA analysis of face-matched individuals will hopefully help us unlock some of the mysteries of rare genetic disorders,” Dr Dudding-Byth adds. “The more people who participate in the project, the greater our chances of finding a match.”
“We are so proud of Dr Dudding-Byth for her work to develop a global web-based portal providing high probability facial matching and making this accessible to the families of children with these disabilities,” Ms Jane Gray, Hunter New England Health Executive Director Partnerships, Innovation and Research, said.
“In 2017 Tracy was successful in receiving an HNE Health Clinical Research Fellowship to support her idea and take this important work to the next stage. Now it gives us enormous joy to see Tracy taking the next step in this work with the support of the Newcastle Permanent Charitable Foundation and HMRI.
“Today we are celebrating what research in the Hunter New England region has become known for,” Ms Gray added, “Together we are supporting a local researcher whose ideas, creativity, talent and drive are poised to make a lasting impact for families around the world.”
HMRI Director Professor Michael Nilsson says a diagnosis is important for both parents and children because it can lead to treatment and long-term management.
“One of the challenges faced by researchers is understanding the genetic pathways,” he said. “This project is still in research phase but we’re hoping it will fill in some of the knowledge gaps for geneticists,” he said.
FaceMatch is supported by the Newcastle Permanent Charitable Foundation, Hunter New England Health, John Hunter Children’s Hospital and the Hunter Medical Research Institute. The website address is facematch.org.au.
Tracy Dudding-Byth is a senior staff specialist/clinical geneticist with John Hunter Children’s Hospital, a Hunter New England Health Clinical Research Fellow and conjoint Senior lecturer at the University of Newcastle, researching in conjunction with HMRI. HMRI is a partnership between the University of Newcastle, Hunter New England Health and the community