World-first discovery of the genetic cause of Lupus.

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A Phenomics Australia case study

Phenomics Australia has enabled world-first research to identify the genetic cause of lupus.

The challenge:

The cause of lupus has been poorly understood.

The solution:

Discover the genetic basis of lupus.

The future:

Offer better-targeted treatment to patients.

The challenge: The cause of lupus has been poorly understood.

Lupus is an autoimmune disease that targets the body’s healthy tissue, causing significant damage, inflammation, and pain. Lupus currently has no cure.

The solution: Discover the genetic basis of lupus.

In a world-first, researchers using NCRIS project Phenomics Australia’s Genome Engineering services have shown that previously ignored rare genetic mutations are a major cause of lupus.

Thanks to these models researchers have discovered the genetic basis of this disease.

“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.

The future: Offer better-targeted treatment to patients.

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.

“I’ve already started treating people who have these rare gene mutations with targeted therapies instead of bombarding their immune system with non-specific treatments that have lots of side effects – which is the current mainstay of therapy.

“And because the genes we have worked on are linked to other autoimmune diseases, our discovery could also be applied to conditions like rheumatoid arthritis and type 1 diabetes.”


Read the related articles:

Paving the way for new and tailored lupus treatments. Link here.

Lupus-causing gene paves way for new and tailored treatments. Link here.

TLR7 gain-of-function genetic variation causes human lupus. Link here.

Groundbreaking genetic discovery shows why Lupus develops

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