Using computer vision to match the faces of children with undiagnosed intellectual disability.
2018 Project Grant
2006 Project Grant
As a consultant clinical geneticist, my research has been inspired by the problems faced by the individuals I see with rare genetic diseases. Although each of the 6000 diseases are individually rare, collectively there are as many people in Australia with a rare disease as there are people affected by diabetes. In 2012, I co-founded a national patient advocacy group, Rare Voices Australia, which unites the estimated 1.5 million Australians living with a rare disease.
My research interests include identifying the genetic modifiers affecting the severity of a paediatric cancer predisposition syndrome called neurofibromatosis type 1 (NF1) with the aim of developing a targeted treatment for individuals with this condition; and the use of 2D facial recognition technology to improve the diagnostic rate for children with syndromic intellectual disability.
Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is one of the more common rare diseases with a prevalence of 1 in 3000. Children and adults with this condition have an increased lifetime risk of benign and malignant cancer affecting the skin and nervous system. There is no current treatment for this disorder which has an incredibly high physical and psychological burden for affected individuals. I believe that studying this disease will provide insights into the pathogenesis of more common cancers.
2D facial recognition technology
Early onset intellectual disability (ID) affects up to 2% of the population, with 1 in 200 having an IQ< 50. Some 30-50% of individuals with ID have associated craniofacial anomalies. Understanding the genetic basis of ID is the first step towards the development of therapy; using current methods of investigation, the molecular diagnostic rate for children with intellectual disability is 15%.
My ultimate goal is to understand the pathways involved in NF1 (Neurofibromatosis type 1) tumor development so that targeted molecular therapy will provide hope to this group of individuals in the future. With the 2D Facial Recognition Project (FaceDx Project) the potential health and cost effectiveness outcomes relate to reduced time to diagnosis of known syndromic forms of ID and the facilitation of ID gene discovery by the identification of the second patient with a similar facial gestalt.
A reduction in the time to diagnosis has the potential to:
Dr Tracy Dudding-Byth is a full-time consultant clinical geneticist at Hunter Genetics and the NSW Genetics of Learning Disability (GOLD) service. Her training in internal medicine and clinical genetics has been combined with clinical research in the areas of genetic epidemiology and rare genetic diseases.
One of the challenges faced by rare disease researchers is the identification of individuals or families around the world with the same rare disease or clinical phenotype. In an attempt to solve the problem of locating individuals with a similar facial gestalt, Dr Dudding-Byth is leading an innovative project in collaboration with Professor Brian Lovell from The University of Queensland evaluating the use of 2D facial recognition technology for matching the gestalt of individuals with known and unknown syndromic forms of intellectual disability.
Dr Dudding-Byth also has a personal connection with a rare disease called Neurofibromatosis type 1 (NF1). She plans to combine her passion in this area with her clinical genetics knowledge to work on developing a targeted molecular therapy to reduce the numbers of cutaneous neurofibromas.
Dr Dudding-Byth is a founding director of the rare disease patient advocacy organisation-Rare Voices Australia and sits on the medical advisory committee of the Steve Waugh Foundation, an Australian charity for children with rare diseases.