Tracy Dudding-Byth

Professor Tracy Dudding-Byth AM is a Consultant Clinical Geneticist in the NSW Genetics of Learning Disability (GOLD) Service at Hunter Genetics, Australia. She holds a conjoint professorship at the University of Newcastle within the School of Medicine and Public Health, Department of Medical Genetics. Her work bridges clinical research and patient advocacy, focusing on neurofibromatosis type 1 (NF1) and rare genetic diseases.

• PhD, University of Newcastle
• Co-founder, Rare Voices Australia

Her research explores genetic modifiers in NF1 severity and the application of 2D facial recognition technology (FaceMatch) for diagnosing syndromic intellectual disability. She leads a $1.6M Medical Research Future Fund project on cutaneous neurofibromas and has contributed to RNA diagnostics standardization via the SpliceACORD consortium.

The FaceMatch platform integrates computer vision with genomic data to enhance diagnostic accuracy across age groups. Her studies span neurogenetic disorders, X-linked intellectual disability, and RNA splicing mechanisms, with collaborative links to the Max Planck Institute and Wellcome Trust Sanger Institute.

• 2021 Research Australia Health and Medical Research Data Innovation Award
• 2015 HCRF Research Mentor of the Year
• 2024 Member of the Order of Australia (AM)

She supervises 3 higher-degree research students in rare disease studies and mentors medical students in case report publication. Her community roles include the Medical Advisory Committee of the Steve Waugh Foundation for rare disease advocacy.