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.
Until now, the exact cause of lupus has been poorly understood.
That's changed thanks to a genetic breakthrough by ANU researchers Dr. Simon Jiang, Dr. Vicki Athanasopoulos, and Professor Carola Vinuesa.
Dr. Jiang has spent six years analysing the genetic instructions locked in DNA which lead to the disease.
"We have shown for the first time how rare gene variants that occur in less than one percent 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.
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