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Immunogenomics Functional Validation

Advances in gene sequencing technology now allow us to understand the genome on a personal level. This is particularly important for sufferers of rare immunological conditions, who often struggle to obtain a diagnosis of their disease. The Clinical Immunogenomics Research Consortium Australia (CIRCA) is a multi-centre collaboration that aims to understand how genetic mutations give rise to immunological diseases in individual patients and to use these findings to improve outcomes for the patients and for others with more common immune diseases. 

State-of-the-art genomics is used to obtain whole genome sequences. In some cases patients will immediately receive a molecular diagnosis. The benefits for the patients include the end of a “diagnostic odyssey”, better therapeutic interventions, informed family planning decisions, cessation of non-beneficial therapies and cost savings for the patients and health system.

For patients who do not posses a previously reported disease-linked mutation, their genome is searched for novel genetic variations that could account for the symptoms observed. Any candidate gene variations observed must undergo rigorous testing before pathogenicity can be attributed to them. Our laboratory performs initial experiments to verify the damaging outcomes of the genetic variation and works with other specialist laboratories to understand the outcomes of altered gene function. Immunological disease are particularly amenable to this approach because immune cells circulate in the blood and therefore relatively straightforward to obtain and test.

The CIRCA team of clinical immunologists, geneticists, genetic counsellors, and research scientists work together to understand the physiological consequences of novel genetic variations, with a view to enhancing our understanding of immunological function. This will allow for improved treatment of both the rare diseases underpinned by these genetic variations, as well as common immunological diseases in which the same pathways may be active.

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