Dr Emily Oates is a Senior Lecturer in Medical Genomics, head of the UNSW Medical Genomics Group, and a neurogenetics consultant for The Sydney Children’s Hospital Network. She has over 14 years of clinical experience in the diagnosis and management of childhood-onset neuromuscular disorders. She also has extensive expertise in the clinical characterisation of new neuromuscular disorders and the analysis of human genomic data for diagnostic and gene discovery purposes.

Research activities

The UNSW Medical Genomics Group is focused on the discovery of new human disease genes and on the analysis of the clinical-, RNA transcript-, protein- and tissue-level impacts of disease-causing mutations within known and emerging human disease genes. We use this information to increase genetic diagnosis rates for affected individuals and their families, to advance our understanding of the clinical characteristics, natural history, and underlying pathogenesis of the genetic disorders we study, and to develop potential new therapies for these disorders.

Current positions

• UNSW Senior Lecturer (Medical Genomics) & Research Team Leader
• Clinical Geneticist (HGSA)
• Honorary Staff Specialist (Sydney Children’s Hospital Network)

Areas of expertise

• Genetics
• Genomics
• Transcriptomics
• Neuromuscular disorders
• Rare diseases
• RNA sequencing
• Whole genome sequencing
• Diagnostics and disease characterisation
• Striated muscle biology
• TTN (titin) and disorders caused by disease-causing variants within this gene ('Titinopathies")