Groundbreaking genetic discovery shows why Lupus ... - LUPUS UK

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Groundbreaking genetic discovery shows why Lupus develops

milkwoman profile image
13 Replies

A friend of mine just sent me the link to this article. Hope and progress!

m.medicalxpress.com/news/20...

**Edited to add photo and the following link to the FULL published article.

nature.com/articles/s41467-...

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Groundbreaking genetic discovery shows why Lupus develops

May 17, 2019 , 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

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milkwoman
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Barnclown profile image
Barnclown

WOW‼️ Drs Jiang, Athanasopoulosa & Vinuesa are ⭐️⭐️⭐️⭐️⭐️ True Detective Heroes‼️

I’m in my later years, but loads of younger patients will benefit HUGELY‼️

😍 THANKS milkwoman 👍👍👍👍👏👏👏👏

My 3 primary immune dysfunction & connective tissue disorder commorbidities are all infant onset... I already know my hEDS is familial, so probably genetic, my PID (panhypogammaglobulinaemia, a CVID) is definitely genetic...and looks like my SLE is too ...now i just need to process all this 🤷🏼‍♀️...especially the role played by my inutero daily exposure for 5 months to the internationally notorious endocrine disrupting artificial oestrogen DES (diethylstilbestrol) ...it’s Nature & Nurture all over again

❤️🍀❤️🍀 Coco

milkwoman profile image
milkwoman in reply to Barnclown

Agreed Coco!

I'm processing this information as well. My friend works in the research world and is going to tell me how to get my genome mapped. I'm a "science" girl so I LOVE stuff like this. We are all just basically one big scientific puzzle and the trick is to unlock and understand all the pieces.

You've been through so much Coco and yet, you are ALWAYS uplifting and positive. Don't count yourself out - this type of research can benefit ANYONE at ANY age! At the very least it can help target the perfect treatment for you to make how may years that may remain the best ones for you.

Lupus and autoimmunity NEEDED this kind of breakthrough. I hope more are coming!!

~Hugs~

Barnclown profile image
Barnclown in reply to milkwoman

👍 i think i’ll GO 🚀 with your advice‼️❤️🍀❤️🍀

suzannah16 profile image
suzannah16

I wonder how many rheumies have read about this. does this make us mutant ninjas? :)

milkwoman profile image
milkwoman in reply to suzannah16

I sent it off to mine the minute I finished reading it.

Ha! I suppose it just might! :-)

thestorm profile image
thestorm

Thank God for someone who is now leading the way to a better plan of findings and true care for us all. Great article!!!!!! I will be reading this one over and over, genetics, as I am to older, and telling my children to keep getting tested, this will definitely help the younger ones of this world. ….. Blessed are the meek, for they shall inherit the earth... thank you milkwoman for finding this and sharing...….;) ;);)

milkwoman profile image
milkwoman in reply to thestorm

Agree!

I've had a rough couple of weeks so when my friend forwarded this link to me, it was just what I needed. Feeling hopeful once again! :-)

milkwoman profile image
milkwoman

I just realized that there's more detailed information on this. I edited the post above to add a cover photo and to insert a link to the FULL article.

Here's the link as well so folks who have commented will get notified...

nature.com/articles/s41467-...

LupusKaren profile image
LupusKaren

Wow this is just so exciting, and gives us all hope.

Treetop33 profile image
Treetop33

This is so great. Might be in time to save my daughter from getting it (though I'm educating her in lifestyle management to hopefully offset problems).

Horsewhisper profile image
Horsewhisper

What an uplifting read! Thanks for sharing milkwoman, we should all feel rather special in this rare breed society!

Bebe76 profile image
Bebe76

Very promising research! Personalized treatment for lupus would be a huge step forward.

Queenmab profile image
Queenmab

Thank you ever so much. I've had genetic tests done in Germany but on different genes causing periodic paralysis. They came up negative but it doesn't change the symptoms whch can accompany systemic scleroderma and run in the family. I asked about Lupus and they said there were no tests other than to detect auto-immune in general. My blood tests always show low ANA and Lupus dismissed even though I tick almost all the boxes. Sometimes I feel as if I'm being eaten alive with tiger's claws in my back and a wolf knawing at the bones of my legs. What medical professional would put up with that for a day!

There is alo good progress on treatment in Israel. I've got the link somewhere and will look it out and post it.

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