Research interests
Autoimmune diseases affect over 5 per cent of the population and are amongst the leading causes of mortality in young and middle aged women. Despite this, the causes of autoimmune disease remain poorly defined and there are no cures. Recent advances in sequencing technologies and bioinformatics now make it possible to identify rare/novel germline gene variants that may cause disease using whole exome/genome sequencing (WES/WGS). At the Centre for Personalised Immunology we are using these technologies to identify the mutations that may be causing disease in individual patients with the aim of tailoring therapy. We have recently sequenced a number of autoimmune patients. The project will involve identifying potential disease-causing genetic variants and then performing PCR and Sanger sequencing to confirm SNV genotypes and disease segregation among other family members. Confirmed candidate SNVs would then be cloned and biochemical assays performed to test protein stability and function. Cellular and or mouse studies may also be performed to determine contribution of variant to SLE disease pathogenesis.