Discovering new genetic causes of primary antibody deficiencies

Discovering new genetic causes of primary antibody deficiencies

Project details

Patients with the most common primary disorder of the immune system, common variable immunodeficiency, CVID, suffer from frequent, severe infections that reduce life expectancy and impair quality-of-life. Early diagnosis and treatment of CVID is vital to prevent significant disease-associated morbidity and will guide personalised therapies and improve patient care. Genomic sequencing and CRISPR/Cas9 gene-editing have accelerated the discovery of new CVID disease-causing genes. However, translation of genomic information is often thwarted by failure to link genetic variants to immune function. 

The aim of this project is to identify and functionally validate new genetic causes of CVID. We will use gene-editing and in vitro cellular techniques to identify specific cellular and molecular defects responsible for CVID and characterise how they lead to diverse clinical phenotypes.  

About our research group

Our Immunogenetics Research Team aims to solve the genomic and functional causes of primary immunodeficiency, focusing on the heterogeneous disorder Common Variable Immunodeficiency (CVID), both as a primary immunodeficiency in itself, and as a model for other complex immune disorders. The team is led by Dr Vanessa Bryant, whose work with Melbourne and Australian Genomics aims to implement early, accurate gene-based diagnoses to allow early therapeutic interventions. 

We use a multidisciplinary approach that combines genomic sequencing with biochemical and quantitative immunology to identify and clarify new genetic causes of CVID, link variants to immune function and thus establish relevant clinical applications that improve patient care and uncover novel targeted therapies. 



Vanessa Bryant in the lab
Immunology division

Project Type: