How Dr Vicki Athanasopoulos is unravelling the mysteries of autoimmune disease
Source: NEOS KOSMOS
Most of us, especially among the elderly in the Greek community, have likely heard someone complain about their arthritis.
In some cases, these symptoms may be linked to autoimmune diseases.
Conditions like lupus and rheumatoid arthritis affect millions worldwide, yet their causes remain complex and difficult to untangle.
Dr Vicki Athanasopoulos from the Centre for Personalised Medicine at the John Curtin School of Medical Research, ANU, is helping decode the biological pathways behind these conditions.
“I’m just interested in how things work, how proteins, how DNA, how the molecules in your cells, and then ultimately how your cells work,” she says to Neos Kosmos.
What is an autoimmune disease?
The immune system’s role is to recognise foreign pathogens, such as bacteria and viruses, and “mount a response to eliminate that threat.”
In autoimmune disease, “your immune system can no longer effectively recognise what’s foreign and what’s self,” explains Dr Athanasopoulos.
As a result, it attacks the body’s own tissues and organs, causing inflammation and ultimately damage.
One of the more common autoimmune diseases is rheumatoid arthritis, which affects about 1 in 50 people.
Rarer conditions, such as lupus, affect roughly 1 in 2,000—and mostly women, though men can occasionally develop it as well.
Research focus and kidney disease
The Greek Australian Senior Researcher and her team study lupus along with a range of other immune conditions.
They also run a program to understand the causes of kidney disease, particularly in Indigenous Australians, who are disproportionately affected.
Dr Athanasopoulos’s interest in kidney disease is personal.
After losing her mother to the condition, she became determined to apply her research to help those affected.
Areas north of Darwin, such as the Tiwi Islands, have some of the “highest recorded rates of kidney disease in the world,” the Canberra-based scientist says.
The human reward behind the science
The Canberra-based researcher finds her lab work both intellectually gratifying and personally meaningful.
After transitioning from “traditional research” to “more translational medical” work, she says the greatest reward comes from meeting patients.
“There’s nothing better than that, to be honest. So, for me, it’s knowing that what I’m doing has an impact.”
Thanks to the work of Dr Athanasopoulos and the Centre for Personalised Medicine, there have been some success stories — including a young girl who was at risk of losing her sight and can now see.
“In this case, we didn’t find the genetic cause of what was driving the inflammation in her eyes, but we did find a more appropriate treatment for her, so she can go on studying, live a normal life, have a family and give back to the community.”
By uncovering how specific genetic and cellular changes cause disease, she hopes to contribute to better therapies and healthier lives for patients.
“These diseases are chronic. Once you’ve got them, you’ve got them for life.”
“So, it’s about managing those symptoms, getting better therapies to try and help individuals cope with living with such diseases.”
A key discovery
A few years ago, Dr Athanasopoulos was among the scientists who identified the TLR7 gene, which can trigger lupus when over-activated.
The breakthrough came from studying a young patient with severe, early-onset lupus.
“We identified the exact mutation, the exact change in her TLR7 gene, and then we were able to make an animal model that replicated her disease,” explains Dr Athanasopoulos.
The model developed lupus-like symptoms with the patient, confirming that this genetic change can drive the disease.
The study also offered insight into why women are more prone to developing lupus.
“Nine times out of ten, women are affected by autoimmune diseases. And we happen to have two of these TLR7 genes because it’s on the X chromosome.”
What’s the cause?
Although “it’s very complex,” Dr Athanasopoulos says, “we do have an idea of some of the pathways.”
“Proteins tend to interact with other proteins; they’re never alone in a cell,” she explains.
Just “like a car,” where one system works with another “to make the whole car move, proteins are the same.”
“They work with other proteins in what we call pathways, to ensure your cells are working properly.”
There is still much to learn about the factors behind autoimmune disease.
However, what is known, says Dr Athanasopoulos is that “autoimmune diseases can have a genetic component.”
“You’ll often see it inherited within families.”
“For example, with identical twins, if you have one twin with lupus, there’s up to a 50% chance that the second twin will also have lupus.”
“It’s not just genetics,” she adds, as stress hormones and environmental factors, “can play a role as well.”
Early signs and personalised treatment
Some key early signs of lupus that should not be overlooked include:
– Unusual fatigue
– A characteristic butterfly-shaped facial rash triggered by sun exposure
– Finger discoloration (Raynaud’s phenomenon)
The Canberra-based scientist says early referral to a rheumatologist is crucial for timely intervention.
Symptoms of autoimmune diseases can vary greatly, so a treatment that helps one patient may not work for another.
Personalised medicine focuses on understanding the causes of disease in each individual and deliver tailored treatments, rather than relying on a “one-size-fits-all” approach.
AHEPA events
Dr Athanasopoulos has also participated in awareness events organised by AHEPA Canberra and the Hellenic Club.
Her most recent event showcased the work of the Centre for Personalised Medicine—a collaboration between The Australian National University and Canberra Health Services—which serves as a national referral point for patients who need specialised care for complex autoimmune diseases.
*Link for Centre for Personalised Medicine video, created by a Greek-Australian and Y Studio:
The original article: belongs to NEOS KOSMOS .
