Dr Emily Cathlin Oates

Dr Emily Oates is a Senior Lecturer in Medical Genomics, head of the UNSW Medical Genomics Group, an NHMRC Neil Hamilton Fairley Early Career Research Fellow and a neurogenetics consultant for The Sydney Children’s Hospital Network. She has over 10 years of clinical experience in the diagnosis and management of infants and children with 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.

She currently holds an NHMRC Neil Hamilton Fairley Early Career Fellowship. This fellowship is focused on harnessing state-of-the-art massively parallel DNA and RNA sequencing technologies to improve genetic diagnosis rates for patients with neuromuscular disorders and to identify new disease-causing genes. During her time as ECR Fellow, Dr Oates contributed to the discovery and characterisation of several new neuromuscular disease genes and genetic disorders including BICD2-spinal muscular atrophy and SCN4A-congenital myopathy. In 2018 she led an 84-member-strong collaboration aimed at providing the first definitive description of a new muscle disease, congenital titinopathy.

Research activities

Currently, Dr Oates is involved in several subsequent projects further characterising the clinical, genetic, and molecular features of titinopathies. Her research involves utilising whole exome and whole genome massively parallel sequencing trio analysis for pathogenic gene discovery and characterisation of titin mutations. In addition, Dr Oates and her Medical Genomics Group use human RNA sequencing data as a diagnostic tool to confirm the impacts of cryptic splice mutations and to determine the exons and isoforms which are critical to striated muscle development and pathology.

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)
• NHMRC Neil Hamilton Fairley Research Fellow
• Honorary Staff Specialist (Sydney Children’s Hospital)
• Honorary Fellow (Great Ormond Street Hospital, London)
• Honorary Staff Specialist (Children’s Hospital at Westmead, Sydney)

Professional experience

Areas of expertise

• Genetics
• Genomics
• Transcriptomics
• Neuromuscular disorders
• Rare diseases
• RNA sequencing
• Whole genome sequencing
• Diagnostics and disease characterisation
• Striated muscle biology
• Titin and titinopathies