In a major development, researchers have been successful in explaining how, rare genetic mutations cause Lupus disease.

The team of Dr Simon Jiang, Dr Vicki Athanasopoulos and Professor Carola Vinuesa at Australia National University (ANU) spent 6 years studying the effect of the previously ignored genetic mutations.

Prof Carola Vinuesa and Dr Simon Jiang from Dr John Curtin School of Medical Research

They studied the genetic factors that lead to development of Lupus disease.

Lupus is a type of auto-immune disorder which has no cure. It targets the body’s healthy tissue, causing inflammation, damage and pain. Till now more than 30 genetic mutations linked to Lupus have been identified.

The genetic mutations which cause Lupus development have been long known but the exact mechanism was not yet fully well understood.

“Until now, it was thought that these rare variants played a negligible role in human autoimmunity and related autoimmune diseases.”

It was known that cell which are no longer needed, die by a natural phenomenon called Apoptosis. But it was not understood how this cell death trigger the immune system to act on body’s cells.

The team has shown that these rare genetic mutations are present in most Lupus patients and how they contribute to immune system dysfunction. The team was able to understand how these rare genetic mutations cause lupus

They have identified how, in people with these genetic mutations, cell death lead to immune system dysfunction.

This research has opened new views to how we understand the development of auto-immune diseases.

Read more: Top 5 Genetic Testing Companies in India

This will start development of new personalizes therapy development for Lupus and other auto-immune disorders. We may hope to find some meaningful therapy regimen for people suffering from Lupus.

This is news article and results are not yet published.

The finding will be published in Nature Journal

Adapted from original report at ANU

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