Rate My Professor Emily Oates

Dr Emily Oates is a Senior Lecturer in Medical Genomics at the University of New South Wales, where she heads the UNSW Medical Genomics Group. She also serves as a neurogenetics consultant for The Sydney Children’s Hospital Network and holds appointments as Clinical Geneticist with the Human Genetics Society of Australasia and Honorary Staff Specialist with the Sydney Children’s Hospital Network. With more than 14 years of clinical experience, Dr Oates focuses on the diagnosis and management of childhood-onset neuromuscular disorders, including the clinical characterisation of new conditions and the analysis of human genomic data for diagnostic and gene discovery purposes.

Her research centres on the discovery of new human disease genes and the examination of clinical, RNA transcript, protein and tissue-level impacts of disease-causing mutations in known and emerging genes. Dr Oates works to increase genetic diagnosis rates for affected individuals and families while advancing knowledge of the clinical characteristics, natural history and pathogenesis of genetic disorders, with the aim of developing potential new therapies. Her areas of expertise include genetics, genomics, transcriptomics, neuromuscular disorders, rare diseases, RNA sequencing, whole genome sequencing, diagnostics and disease characterisation, striated muscle biology and titinopathies. Notable publications include "Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum" in Annals of Neurology (2025) and "Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy" in Nature Genetics (2024).