Medical Research

What are your research interests?

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 Cutaneous Neurofibroma Consortium is a research project funded by a $1.6 M grant from the Medical Research Future Fund which I am leading. It aims to increase understanding of how genetics influences the number of skin neurofibromas a person with NF1 may develop and how to treat neurofibromas in the future.

The study is open to adults with a clinical or genetic diagnosis of NF1. Participants can register here.

Neurofibromatosis type 1 (NF1) is one of the more common rare diseases with a prevalence of 1 in 2500. 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.

The FaceMatch searching for a diagnosis project

Early onset intellectual disability (ID) affects up to 2% of the population, with 1 in 200 having an IQ< 50. Characteristic facial features are seen in up to 50% of individuals with Mendelian neurocognitive disorders. 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. The FaceMatch computer vision platform (Facematch.org.au) is the first and only combined clinician and consumer-driven initiative to integrate facial matching over the age spectrum with HPO terms and genomic variant data. CI Dudding-Byth received the 2021 Research Australia Health and Medical Research Data Innovation award for developing the FaceMatch project.

Why did you get into research?

Working as clinical geneticist and having a child with neurofibromatosis type 1 (NF1) motivated me to research NF1 and other rare genetic conditions. I experienced a long diagnostic delay with my daughter. This gave me insight into the lengthy diagnostic journey that the parents of my patients with rare neurocognitive disorders experience. This period of delayed diagnosis is associated with an intense sense of isolation and chronic grief. I believe that my daughter has made me a better person, doctor and motivated researcher.

What would be the ultimate goal for your research?

My ultimate goal to understand how we can treat the cutaneous neurofibromas associated with neurofibromatosis type 1. I also hope that the FaceMatch project can reduce time to diagnosis for children with rare genetic disorders, where facial features can provide a clue to diagnosis.

Biography

Associate Professor 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.

Associate Professor 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.

Specialised/Technical Skills

• Clinical Geneticist
• Clinical phenotyping of individuals with Intellectual disability 
• 2D facial recognition technology for dysmorphology

Affiliations

• Co-founding director of Rare Voices Australia
• Medical Advisory Committee of the Steve Waugh Foundation
• Priority Research Centre for Grow Up Well

Awards

Associate Professor Dudding-Byth is also a recent recipient of the Data Innovation Award Sponsored by Bupa Health Foundation. She received the award for her work on developing an image recognition system to assist in the diagnosis of rare genetic conditions.