Rate My Professor Emily Oates

Dr Emily Oates is an Associate Professor and Senior Lecturer in Medical Genomics within the School of Biotechnology and Biomolecular Sciences, Faculty of Science, at the University of New South Wales. As head of the UNSW Medical Genomics Group, she is also a neurogenetics consultant for the Sydney Children’s Hospital Network, a Clinical Geneticist credentialed by the Human Genetics Society of Australasia, and an Honorary Staff Specialist. With more than 14 years of clinical experience in the diagnosis and management of childhood-onset neuromuscular disorders, Oates possesses extensive expertise in the clinical characterisation of novel neuromuscular disorders and the analysis of human genomic data for diagnostic purposes and gene discovery. She earned a Bachelor of Medical Science with First Class Honours, Bachelor of Medicine and Bachelor of Surgery with Honours, a PhD—based on her thesis 'Clinical and genetic characterisation of dominant congenital spinal muscular atrophy' completed in 2015—and is a Fellow of the Royal Australasian College of Physicians.

Oates' research specializations encompass the discovery of new human disease genes, particularly in neuromuscular and rare diseases; assessment of disease-causing mutation effects at clinical, RNA transcript, protein, and tissue levels; enhancement of genetic diagnosis rates for patients and families; delineation of clinical characteristics, natural history, and pathogenesis of genetic disorders; and development of potential new therapies. Her academic interests include genetics, genomics, transcriptomics, RNA sequencing, whole genome sequencing, diagnostics and disease characterisation, striated muscle biology, and titinopathies arising from TTN gene variants. She has secured major National Health and Medical Research Council funding, including a $2.5 million Ideas Grant in 2022 and a $3 million Ideas Grant in 2023, to improve health outcomes for Australians with genetic neurological diseases. Key publications include 'Congenital Titinopathy: Comprehensive Characterization and Pathogenic Insights' (Annals of Neurology, 2018), 'Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia' (American Journal of Human Genetics, 2013), 'Improving Genetic Diagnosis in Mendelian Disease with Transcriptome Sequencing' (Science Translational Medicine, 2017), and 'Genome and RNA Sequencing Boost Neuromuscular Diagnoses to 62% from 34% with Exome Sequencing Alone' (Annals of Clinical and Translational Neurology, 2024). Her contributions have advanced diagnostic genomics, significantly increasing yield through multi-omics integration and informing therapeutic strategies for rare neuromuscular conditions.