Edwards - Primary Immunodeficiency (PID) Group
The Primary Immunodeficiencies (PIDs) Group is a translational research program focused on improving the diagnosis, mechanistic understanding and avenues for targeted treatment in patients with Inborn Errors of Immunity (IEI, otherwise known as PIDs). IEIs are rare genetic conditions causing life-threatening recurrent infections, autoimmunity and immune dysregulation. Although variants in more than 500 genes are known to cause IEI, ~70% of patients remain without a genetic diagnosis. This limits access to targeted therapies rendering them at risk of irreversible organ damage and early death.
The group integrates advanced functional immunology and genomics with clinical collaboration to address the major unmet needs in precision medicine access for rare immune disorders. A central goal is to improve diagnosis rates and therapeutic access for patients with genetically unresolved disease, particularly those with non-infectious diseases associated with significant morbidity and mortality. The group maintains strong collaborations with major Australian and International clinical and research centres (including the Garvan Institute, Erasmus MC and the University of South Florida), as well as patient organisations (AusPIPS Inc.) supporting direct translation of discoveries into patient care and future clinical implementation.
Our research
Our research combines functional immune profiling, high-dimensional flow cytometry, genomics and single cell technologies to identify disease-causing immune dysfunction in patients with IEI. We are developing a novel function-first diagnostic platform to define pathogenic immune abnormalities and interpretation of genetic variants.
In parallel, we investigate the mechanisms underlying non-infectious complications including autoimmunity and irreversible organ damage in IEI to identify biomarkers of disease presence, severity and progression. Our work also examines immune protection in antibody-deficient patients receiving vaccinations and/or immunoglobulin replacement therapy, including responses to respiratory viruses such as influenza and SARS-CoV-2. Through close partnerships with clinical immunology, respiratory medicine and patient organisations, our program aims to deliver clinically actionable diagnostics, biomarkers and targeted therapeutic strategies for a larger number of patients with rare immune diseases for which access is currently limited.
Translational and Patient-Centered Immunological Research
Alongside her research, Dr Edwards holds leadership roles as Vice President of IEI patient organisation AusPIPS Inc. and is an Executive member of the Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies in Melbourne. These dual translational research and patient advocacy roles ensure that research priorities remain strongly aligned with patient-centred outcomes, clinical need and real-world healthcare impact across the diagnostic and therapeutic pipeline. This also ensures that outcomes of research are directly communicated to key stakeholders including patients, carers, family members, clinicians, researchers and governments.
Research themes
Our people
Lab Head
Students
- Hajra Fayyaz (Visiting PhD Student)
- Zoe Adams (Honours Student)
