Rate My Professor Tracy Dudding

Professor Tracy Dudding-Byth AM serves as Conjoint Professor in the School of Medicine and Public Health at the University of Newcastle, within the College of Health, Medicine and Wellbeing. She earned her Bachelor of Medicine and Doctor of Philosophy from the University of Newcastle. As Consultant Clinical Geneticist with the NSW Genetics of Learning Disability (GOLD) Service at Hunter Genetics, NSW Health, she focuses on clinical genetics, rare genetic diseases, intellectual disability, medical genetics, and neurofibromatosis type 1 (NF1). Her research emphasizes identifying genetic modifiers influencing NF1 severity for targeted treatments and developing the FaceMatch computer vision platform, which integrates 2D facial recognition with phenome ontology terms and genomic variant data to enhance diagnostic rates for syndromic intellectual disability in children. Career appointments include Senior Staff Specialist in Clinical Genetics at Hunter Genetics since 2013 and HNEHealth Clinical Research Fellow from 2017 to 2020. She has supervised PhD and Masters students in medical genetics and nursing.

Professor Dudding-Byth's contributions have earned her the Member of the Order of Australia (2024) for research and rare disease patient advocacy, Research Australia Health and Medical Research Data Innovation Award (2021) for FaceMatch, Hunter Area Health Service Career Development Fund (1997), World Health Organisation Travelling Scholarship (1997), and HCRF 2015 Research Mentor of the Year. Key publications include 'Updated penetrance estimates for recurrent copy number variants – an improved definition and formula' (European Journal of Human Genetics, 2026, with S. Goh et al.), 'A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment' (Genetics in Medicine, 2025, with S. Goh et al.), 'The clinical and genetic spectrum of TRIO-gene related neurodevelopmental disorder' (Epilepsia, 2023, with T.B. Hammer et al.), 'Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance' (Clinical Genetics, 2023, with M. Leffler et al.), and 'POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum' (Clinical Genetics, 2023, with A. Rossi et al.). Her work spans collaborations across Australia and internationally.