The laboratory focuses on elucidating the genes and mechanisms controlling the development and function of B cells and other lymphocytes. To find new genes involved in B cell development we do screening of mice after random ENU mutagenesis. This process has led to the discovery of essential roles for different genes in the development, survival or function of B cells. Some key results were the discovery that defects in ATP11C, a phospholipid transporter, block early B cell development in the bone marrow and that the endosomal peptidase SPPL2A is essential for the survival of mature B cells. In NHMRC funded research projects we are currently following up on these discoveries to understand the molecular mechanism underlying the observed defects.
Another recent focus in my group is the identification of novel causes for primary human immunodeficiencies. In collaboration with clinical groups in Australia and overseas we have sequenced the genome of patients without a known genetic cause. This has led to the discovery of the most likely causal mutation in different genes that were previously not known to be involved in the immune system. We are currently generating mouse models with the same mutations to better understand the molecular basis for the disease.
Development and function of B cells
Lymphocyte development and differentiation.
Genetic basis of autoimmunity