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In a world first, researchers from The Australian National University (ANU) have shown previously ignored rare genetic mutations are a major cause of lupus.
The discovery is set to change our understanding of the causes of disease and potentially save lives.
Lupus is an autoimmune disease that has no cure. It targets the body’s healthy tissue, causing inflammation, damage and pain.
Until now, the exact cause of the disease has been poorly understood.
“We have shown for the first time how rare gene variants that occur in less than one per cent of the population cause lupus and how these variants drive the disease in the body,” said Dr Jiang, from the Centre for Personalised Immunology, an NHMRC Centre for Research Excellence at ANU.
“Until now, it was thought that these rare variants played a negligible role in human autoimmunity and related autoimmune diseases.
“We’ve shown how most lupus patients harbour those so-called rare gene variants and how these rare gene variants cause immune cells to no longer work properly.
“When the cells no longer work, your immune system struggles to distinguish viruses and bacteria from self, leading to lupus.”
The finding makes way for life-saving personalised treatment for lupus and other autoimmune diseases.
“There is huge potential for targeted treatment,” said Dr Jiang.