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LUpus Patients Understanding and Support
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Groundbreaking genetic discovery shows why Lupus develops


ANU researchers Professor Carola Vinuesa and Dr Simon Jiang.

Credit: Australian National University

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.

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.

"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.

"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."

The finding may also help identify and predict how severe an individual's lupus is.

"Lupus is a disease that can be very hard to diagnose. You can have a lot of illnesses that look like lupus, smell like lupus, but we can't formally call it lupus.

"It now will only take a few weeks to get a patient's genome sequence. We can look at how the immune system is behaving, take blood tests and with genome sequencing we can fit the pieces together and see if it is lupus."

Dr. Jiang says the discovery is a personal victory because he has seen so many people suffering from lupus.

"When I was a junior doctor, I had a patient in her 40s who died because of an autoimmune condition and we just could not figure out what was wrong. That shouldn't happen and it affected me a lot. I'd like to think if she came to me nowadays I'd be able to do something different. I hope I'd be able to save her life."

More information: Simon H. Jiang et al. Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus, Nature Communications (2019). DOI: 10.1038/s41467-019-10242-9

Journal information: Nature Communications

Provided by Australian National University


LUpus Patients Understanding & Support (LUPUS)

9 Replies

Great but what can we do about this? Looks like it only helps w diagnosis

in reply to miccika1

It all helps to build up a picture about SLE. Doctors still know very little about it. There isn't a blood test that can diagnose SLE. Despite the fact that the Classification for Lupus is meant to help select the same kind of patients for clinical trials, it is still being used to diagnose individual patients - even by some specialists. This means many women go undiagnosed for decades!

Unfortunately, SLE is a cinderella disease! Millions poured into HIV/AIDs but SLE doesn't get the same finding. Moreover, not all rheumatologists are expert in SLE; some have never treated a lupus patient.

SLE is diagnosed clinically & even with an expert, it can take years. It took Dr Graham RV Hughes 18 months before he was certain I had SLE. This is because there are lupus variant conditions. Not everyone has the classic: malar rash, positive ANA & lupus nephritis! I don't!

If we understand how autoimmunity works & the roles played by B cells & T cells, the immunoglobulins etc better treatment will result.

With good wishes,


Understood, but the title is misleading. People who are born with this genetic variants may or may not develop lupus, so they didn't discover why lupus develops, just the genetic predisposition. If it is just genes, we would all have lupus since birth.

in reply to miccika1

I don’t think that is what they are saying because unlike genetic diseases, SLE is only partly genetic. There are many people with a positive ANA, for example, who are perfectly healthy.

You need to read the actual paper itself rather than the summary reported.

SLE is like a “card game” where you are dealt a hand. If you are unlucky, you will contract SLE or RA or MS or Type 1 diabetes but you will need ALL the factors, not just genetics! Some families have more than their fair share of autoimmune diseases but even here, some do not develop autoimmune diseases!

Every discovery is a positive development in our understanding!

Be well!


I read the original article and that's why im saying the above article is misleading. The original article is fine. The above one is shit. For exaple the title: 'Groundbreaking genetic discovery shows why Lupus develops" has nothing to do w the original article where scientists talk about genetic predispositions they identified. I'm very happy with the original article and the work people are doing but im very much against poor reporting that makes people misunderstand this disease even more.

Another example is from bellaflowe that commented on this article. She believes that somehow this discovery can tailor medication or therapy for individual people. There is nothing in original article suggesting that. Sure maybe in 300 years or so, if you know where the state of genetic manipulation is.


This brings me a lot of hope for people in the near future and for the generations that follow us. Hopefully they won’t have to suffer without a diagnosis for years and the treatment can be tailored to an individual, instead of having to take medications with so many side effects. I spent years on azathioprine, mycophenalate and MTX before I was given rituximab, and my body and health suffered greatly because of that.

This really is wonderful news that we have real progress in understanding what causes lupus. This is vital for finding a cure. Thanks for the article, Ros!


in reply to Bellaflowe

Your positivity does shine through despite your suffering!

I hope you are as well as post!

With good wishes


in reply to lupus-support1

Thanks, Ros :) I try to be as optimistic as possible. There are many things in life I can’t control because of my health, but I can choose how I react to it.

My health isn’t great at the moment and my sensitivity to the sun has massively increased, so I’m still trying to navigate how best to deal with that. But, I’m doing okay and managing! Hope you’re as well as you can be and the recent heatwave wasn’t as bad where you are!

Suzy x

in reply to Bellaflowe

Suzy, I am sorry to read you are not in such good health!

If I can help in any way, or if you just want to talk, you can always contact me, anytime! You don't have to battle alone!

With good wishes,