Emily Oates

Dr. Emily Oates is a Senior Lecturer in Medical Genomics at the University of New South Wales (UNSW), School of Biotechnology and Biomolecular Sciences. She serves as head of the UNSW Medical Genomics Group and works as a neurogenetics consultant for The Sydney Children's Hospital Network. With over 14 years of clinical experience, Dr. Oates specializes in the diagnosis and management of childhood-onset neuromuscular disorders.

Her research focuses on the discovery of new human disease genes and analysis of clinical, RNA transcript, protein, and tissue-level impacts of disease-causing mutations, particularly within the TTN gene (titin) and related disorders (titinopathies). As leader of the UNSW Medical Genomics Group, she works to increase genetic diagnosis rates, advance understanding of clinical characteristics and pathogenesis of genetic disorders, and develop potential new therapies.

Dr. Oates' recent publications demonstrate a strong focus on neuromuscular genomics, with particular emphasis on titin-related disorders, RNA sequencing applications in diagnostics, and the molecular characterization of congenital myopathies. Her work bridges clinical practice with genomic research, developing diagnostic approaches that have significantly improved diagnosis rates for neuromuscular conditions.

Her areas of expertise include genetics, genomics, transcriptomics, neuromuscular disorders, rare diseases, RNA sequencing, whole genome sequencing, diagnostics and disease characterization, striated muscle biology, and TTN (titin) disorders.

Based in Room 320C, Level 3, Biological Sciences North Building D26 at UNSW, Dr. Oates maintains an active research program that combines clinical neurogenetics with cutting-edge genomic technologies to improve diagnosis and understanding of complex neuromuscular conditions.