Screening for novel genetic causes of primary immunodeficiency

Screening for novel genetic causes of primary immunodeficiency

Project details

Patients with the most Common Variable Immunodeficiency (CVID) experience frequent and severe infections that can be debilitating and reduce life expectancy, as well as increased risk of inflammatory disease, autoimmunity and malignancy. Early diagnosis and effective treatment of CVID is vital to prevent these complications. 

Genomic sequencing has accelerated the discovery and validation of new CVID disease-causing gene variants. However, decoding patients’ genomic information is challenging due to difficulties in systematically analysing and short-listing genetic variants of uncertain significance. The aim of this project is to screen patient genetic data and use in silico predictions to prioritise potential CVID-causing genes. This project will use a cellular reporter assay to determine the impact of these variants on protein function and downstream cell signalling.

About our research group

The Bryant lab aims to solve genomic and functional causes of primary immunodeficiencies, with a focus on CVID. We directly investigate human samples and model cell lines using a multidisciplinary approach, combining genomic sequencing approaches with biochemical and quantitative immunology to identify the underlying causes of CVID. The overarching aim of the lab is to link genetic variants to immune function and potentially uncover novel targeted therapies for CVID.

The team is led by Dr Vanessa Bryant, whose work with Melbourne and Australian Genomics has resulted in an extensive bank of patient sequencing results and samples from patients with CVID. Dr Lauren Howson is a senior research officer who is developing cellular and molecular immunological assays that can assess the impact of patient-specific genetic variants.


Email supervisors



Vanessa Bryant in the lab
Immunology division
Photo of Dr Lauren Howsen

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