CIRCA

At CIRCA, we work closely with scientists and clinicians to facilitate easy access to genomic and functional testing and access to our network of global expertise partners. CIRCA’s established infrastructure was built to support the discovery of genomic causes of immune disease and to facilitate investigator-lead projects within the CIRCA Study remit.

By providing access to state-of-the-art functional and genomics research expertise, CIRCA brings together a multidisciplinary collaborative team to understand the clinical manifestations in families with rare or novel pathogenic gene variants that cause Primary Immune Deficiencies (PIDs) or Inborn Errors of Immunity (IEI). This has allowed for improved understanding and treatment of both the rare diseases underpinned by these genetic variations, as well as common immunological diseases in which the same pathways are involved.

The identification of genetic variants as a diagnostic tool not only brings an end to invasive and often inconclusive testing, but it also allows clinicians to tailor treatments to individual patients. Increasingly, cellular techniques and other translational tools, such as RNAseq and single cell transcriptomics, are used to understand the mechanisms of disease or validate diagnoses. By understanding the mechanisms and pathways of disease, we can improve therapeutics and patient care for all.

CIRCA’s primary activities are:

• Providing state-of-the-art genetics, genomics and DNA/RNA sequencing techniques to understand the cause of disease in patients with rare or novel gene mutations.
• Functional testing of the immune system through partnerships with local and global laboratories.
• Hosting regular multidisciplinary forums for clinicians and scientists to discuss difficult-to-diagnose cases and receive support.
• Facilitating investigator-led projects through an established ethics and governance framework and operational infrastructure.
• Creating research opportunities through an extensive global network of collaborating scientists and clinicians to accelerate discovery and diagnosis of rare immune diseases
• Building a de-identified phenotype-genotype database of rare disease patents with biobanked bloods samples and whole genome sequence data.

CIRCA Steering Committee  

• Professor Stuart Tangye (Chairperson): Laboratory Head | Immunology and Immunodeficiency, Garvan
• Dr Paul Gray (Vice-Chairperson): Immunologist and Pathologist, Sydney Children’s Hospital and Campbeltown Hospital
• Rebecca MacIntosh: Genetic Counsellor, Sydney Children’s Hospital
• Christine Jeffery: Vice Chair IPOPI; Past CEO, IDFA; Patient Advocate
• Dr Alisa Kane Immunologist and Pathologist, St Vincent’s Hospital and Liverpool Hospital
• Professor  Leslie Burnett: Genomic Pathologist; Garvan and Invitae
• Assoc Professor Elissa Deenick: Laboratory Head | Immunology and Immunodeficiency, Garvan
• Dr Karen Enthoven: Project Manager, CIRCA
• Dr Melanie Wong: Immunologist and Pathologist, Children’s Hospital Westmead

Project Management Team

• Dr Karen Enthoven: Project Manager, CIRCA
• Patrick O’Young, Research Assistant, CIRCA

Research Team

• Dr Georgina Hollway
• Assoc Professor Elissa Deenick
• Professor Stuart Tangye
• Assoc Professor Cindy Ma Laboratory Head | Immunology and Immunodeficiency, Garvan
• Dr Karen Enthoven
• Patrick O’Young

Case Review Team

• Dr Ming-Wei Lin, Immunologist, Westmead Hospital
• Dr Peter McNaughton Immunologist, Children’s Health Queensland
• Dr Peter Hsu Immunologist, Children’s Hospital Westmead
• Dr Melanie Wong Immunologist, Children’s Hospital Westmead
• Anne Sullivan Nurse, Children’s Health Queensland
• Dr Pei Dai, Postdoctoral and Immunologist, St Vincent’s
• Dr Paul Grey
• Professor Stuart Tangye
• Professor Leslie Burnett

VUS Club

• Professor Leslie Burnett
• Rebecca McIntosh
• Dr Paul Gray

Data Access Committee

• Mary-Anne Young
• Joe Copty
• Professor Stuart Tangye
• Matthew Hobbs
• Professor Leslie Burnett
• Professor Tri Phan

Patients

If you or a family member has a rare immunodeficiency with no current genetic diagnosis, please speak to your clinical immunologist about the possibility of participating in CIRCA.

Clinicians

If you wish to be involved or have patients you'd like to be considered for inclusion in a CIRCA study, please email: CIRCA_info@garvan.org.au.  

Researchers

Interested scientific researchers can email: CIRCA_info@garvan.org.au.