Phenomics Australia is celebrating 20 years of the National Collaborative Research Infrastructure Strategy (NCRIS).
The National Collaborative Research Infrastructure Strategy (NCRIS) is a national partnership that connects researchers, universities, and industry with the facilities, technology and expertise they need to explore new ideas and drive innovation.
For 20 years, NCRIS has formed the backbone of Australia’s research capability. Through nationally coordinated investment and collaboration across institutions, NCRIS has built one of the world’s most respected research infrastructure systems – delivering impact across health, agriculture, energy, defence, environmental science and advanced manufacturing.
As a founding member of NCRIS, Phenomics Australia has been embedded in this journey from the beginning. Our infrastructure, expertise, and collaborations are a critical part of the broader NCRIS ecosystem that enables cutting-edge research and innovation not only across Australia but globally.
Phenomics Australia enables the discovery of disease mechanisms, translation into clinical and commercial outcomes, and collaboration across research, healthcare and industry.
Throughout 2026, we will be sharing stories from across our community, highlighting the people, projects, and discoveries that have been made possible through NCRIS. These stories will offer a behind-the-scenes look at how national research infrastructure helps transform ideas into impact.
Start exploring our stories and learn more about our role within NCRIS:
Phenomics Australia 20th NCRIS Anniversary Highlights
Unlocking Answers for a New Human Disease: CRIA Syndrome
For years, a family in the United States faced a devastating medical mystery. Several members suffered unexplained waves of inflammation, high fevers, and chronic illness without a diagnosis. Treatments failed, leaving doctors uncertain and hope fading.
That changed when an international research consortium, supported by Phenomics Australia, stepped in.
Using advanced in vivo disease models at the MAGEC platform in Melbourne, researchers identified the genetic cause of the condition, now known as CRIA Syndrome, a rare autoinflammatory disease. This breakthrough was made possible by Phenomics Australia’s genome engineering capabilities, which allow scientists to model human disease with extraordinary precision.
Identifying this mutation is more than a scientific milestone; it offers a path forward. With the cause now known, researchers are already exploring targeted treatments that could provide safer, more effective care for people with CRIA Syndrome, and potentially other conditions such as colitis, arthritis, and psoriasis.
Phenomics Australia plays a central role in enabling these discoveries, ensuring Australia remains a leader in precision health and delivering real outcomes for patients worldwide.
Changing Lives Through Precision Medicine: The Lupus Breakthrough
At just 14, Canberra teenager Gabbie was diagnosed with lupus, a severe autoimmune disease in which the immune system attacks the body’s own tissues, causing inflammation, pain, and long-term damage. In 2019, what began as a fever and pneumonia rapidly escalated into a life-threatening crisis. Gabbie spent weeks in intensive care, including two induced comas. In the years that followed, she endured ongoing symptoms and intensive treatments with limited relief, an experience shared by thousands of Australians living with lupus.
Now, that is beginning to change.
Through the national research infrastructure provided by Phenomics Australia, Australian scientists have contributed to a world-first discovery. Using advanced genome engineering and disease modelling, Gabbie’s physician, Dr Simon Jiang, identified rare genetic mutations as a key driver of lupus, mutations that had previously gone undetected.
This discovery has had a global impact. In collaboration with international teams, Australian researchers analysed the genome of a young girl in Spain with a severe, treatment-resistant form of lupus. By combining genome engineering, histopathology, advanced imaging, and computational analysis, they identified a rare mutation as the root cause of her disease, enabling more targeted treatment options.
These breakthroughs are transforming lives and highlighting how Phenomics Australia is driving precision medicine and improving outcomes worldwide.
New antibiotic candidate to tackle deadly bacterial ‘superbugs’
From discovery to clinical care, new research is changing how life-threatening infections are managed. Each year in Australia, more than 55,000 people are diagnosed with sepsis, a serious condition in which the body’s response to infection triggers widespread inflammation. Without prompt treatment, this can lead to organ failure. Around 8,500 Australians die from sepsis annually, a toll that exceeds road fatalities and deaths from several major cancers.
Effective antibiotics are essential for treatment. However, rising antibiotic resistance poses a serious global threat. Without new therapies, projections suggest up to 10 million deaths worldwide each year by 2050, alongside enormous economic costs, estimated at $700 million a year in Australia and up to 100 trillion USD globally.
A study led by Monash researchers in collaboration with Qpex Biopharma Inc. highlights the development of QPX9003, a novel antibiotic targeting drug-resistant Gram-negative “superbugs,” which can cause infections such as pneumonia and bloodstream infections. This intravenously administered synthetic lipopeptide represents a major advance, as no new peptide antibiotics for these pathogens have been approved since the 1950s.
Phenomics Australia has been central to this progress, providing advanced histopathology and imaging support that helped move QPX9003 from early discovery into Phase 1 clinical trials, demonstrating the value of national research infrastructure in tackling antimicrobial resistance.
Kathleen Folbigg: A Victory for Science
For two decades, Kathleen Folbigg was imprisoned following the deaths of her four young children, crimes she consistently maintained she did not commit. Her case sparked intense debate among legal experts and the public. Ultimately, it was science that uncovered the truth.
Breakthrough genetic research, supported by Phenomics Australia, played a decisive role. An international team of scientists used advanced genome sequencing, in vivo disease modelling, and functional analysis to investigate the case.
Working with the Australian Phenomics Facility, researchers identified a rare genetic mutation carried by both Kathleen and her daughters, one capable of causing sudden, natural death. This finding provided a scientific explanation for tragedies that had previously been viewed with suspicion.
The strength of this evidence, underpinned by world-leading genomics and phenotyping infrastructure, assisted a formal inquiry and ultimately to Kathleen Folbigg’s release in 2023.
This was more than the resolution of a legal case, it marked a powerful example of how science can correct injustice, inform legal systems, and change lives. The case highlights the broader societal value of precision medicine, demonstrating its impact not only in healthcare but also in delivering justice and restoring lives.
New Genetic Discovery Brings Hope for Australians with Psoriasis
For thousands of Australians living with psoriasis, including Rebecca Davey, everyday life involves managing painful, red, and scaly skin alongside persistent discomfort. Far from being just a cosmetic concern, psoriasis is a chronic inflammatory disease that can significantly reduce quality of life and may lead to related conditions such as psoriatic arthritis.
Encouragingly, new research is offering hope. Scientists from The Australian National University, with support from Phenomics Australia, have identified a specific gene mutation linked to the development of psoriasis.
This discovery was made possible through advanced genome engineering and disease modelling infrastructure, along with specialised histopathology and imaging services. Together, these tools have allowed researchers to better understand how psoriasis develops and how it might be treated more effectively.
“Phenomics Australia’s support has been instrumental in advancing our research,” said Dr Cardinez of the John Curtin School of Medical Research. “Their contribution helped us identify a gene mutation critical to both psoriasis and psoriatic arthritis, opening the door to more targeted and effective therapies.”
This discovery holds promise not just for treatment, but for the potential to reduce long-term health burdens for many Australians.
