Rare Disease
Building Australia’s largest collection of research-accessible rare disease genomic data
There are more than 7,000 genetic diseases that collectively affect at least one in every 17 Australians, disproportionately children. For nearly half of all Australians affected by these conditions, current approaches can't provide a confident diagnosis.
Without a diagnosis, families affected by genetic disease cannot access family planning options, critical new precision medicines, or design optimal healthcare plans.
We are working with clinicians and research scientists across Australia on more than 20 projects, including the Australian Undiagnosed Diseases Network, to find answers for more families affected by genetic disease.
Through this network we have assembled data from over 6,000 individuals across 3,500 families, creating Australia's largest research-accessible rare disease genomic database. This secure cloud-based collaborative analysis platform allows controlled access for clinicians and researchers to identify disease-causing genetic variants.
Hundreds of new diagnoses have already been returned to families as a result of our work. Our scientific and clinical impact also provides a foundation for a wide variety of downstream research projects to understand the genetic basis of rare disorders and the identification of new therapeutic targets.
Harnessing advanced analytics to drive more successful diagnoses of rare diseases for undiagnosed families
Current genetic disease diagnosis is manually intensive, requiring hours of effort from expert curators, making genetic testing expensive and time-consuming. Analysis of undiagnosed patients' data is often outdated, and the process cannot scale to meet the demands of population-scale genomic medicine.
To build a more scalable model for genomic analysis, our team is partnering with national and international collaborators to build an automated platform for regular reanalysis of genomic data from undiagnosed families.
This approach – which can be run quickly and cheaply on thousands of samples – has already yielded more than 150 new diagnoses for families where initial genetic analysis was unsuccessful.
We are working with academic, industry, and clinical partners to establish integrate powerful new AI technologies into the diagnosis of rare genetic disease, applying them to large research cohorts and deploying them at scale in clinical labs nationwide.
Our impact stories
The birth of a child is one of life’s most joyous moments. But for Mel Anderson, the overwhelming happiness of welcoming her baby girl, Sarah, was quickly overshadowed by fear and uncertainty. Within hours of her birth, Sarah’s health took a concerning turn.
“By the 36th hour, I had a floppy child who still hadn’t fed, who was turning blue. Her temperature was plummeting. Even though she was my first child, I instinctively knew she shouldn’t feel ice cold,” says Mel.
Sarah was rushed into the Special Care Nursery at the Royal Women’s Hospital in Melbourne and placed in a humidicrib among premature babies. Though she stabilised, her condition remained a mystery, launching Mel into an arduous journey of medical uncertainty.
The Long Road to a Diagnosis
For six and a half years, Sarah endured a relentless cycle of tests and misdiagnoses, causing Mel frustration. Every possible explanation was explored, from genetic and metabolic disorders to spinal issues and muscular dystrophy.
“It was one test at a time,” Mel recalls. “Each test was sent away—to New York, Atlanta, London, or Switzerland. The waiting was agonising, and every result felt like another crushing blow.”
Sarah’s neurologist, Prof. Richard Leventer, remained committed to uncovering the truth. He contacted Dr. Cas Simons, a rare disease researcher that now leads the Rare Disease Team at the Centre for Population Genomics (CPG), and asked if he could help. Dr. Simons had been developing a pioneering approach to analysing the genomes of families living with rare diseases like Sarah and Mel’s. By looking for changes in Sarah’s genome that were not present in either of her parents, he was able to pinpoint a change in a gene called PURA that was likely to cause Sarah’s condition. However, as the PURA gene had never been associated with disease before, more evidence was needed to prove that PURA was the answer.
A breakthrough came when Dr. Simons attended a genetics conference and learned about three families from the UK with similar symptoms and changes in their PURA gene. Combined with the evidence from Sarah, this provided the proof needed to link changes in the PURA gene to a neurodevelopmental disorder affecting cognitive and physical development. Sarah’s condition finally had a name, PURA Syndrome.
Diagnosis: A Beginning, Not an End
The work of Dr. Simons and Prof. Leventer played a pivotal role in this discovery, proving the power of genomic research in unlocking answers for families in need. After six gruelling years, Sarah had a diagnosis. But rather than a resolution, it raised new questions.
“Getting a diagnosis wasn’t the end of our journey—it was the beginning. It gave us the name of a gene, a starting point, but it also brought more questions. Still, it meant we weren’t alone anymore.”
The diagnosis was a breakthrough, but there was no clear roadmap. No established treatment options. No precedent to follow. With limited research available, Mel knew she couldn’t afford to wait for answers.
Building a Global Community for PURA Syndrome
Determined to find solutions, Mel joined forces with other PURA families to establish the global PURA Syndrome Foundation. She played a critical role in building a global network and uniting specialists from around the world.
“I was tasked with developing a global research network and bringing researchers together. In mid-2016, I helped gather them all in the UK for the first time.”
What began as a grassroots effort has grown into a strong international community. Today, Mel serves as the director and chair of the PURA Foundation Australia, a non-profit charitable organisation supporting the families of 36 confirmed cases across Australia and New Zealand. Here, her focus is on fostering connections, advancing research and precision therapies, advocating for rare disease, and raising awareness.
The Present and Future: The Critical Role of CPG in Rare Disease Diagnosis
Today, Sarah is a 17-year-old who loves Taylor Swift, shopping, visiting cafes, and gardening.
“Sarah has developmental delay as well as physical and mental disabilities, making every day unique. On any given day, I can get a very different child. Some days, everything is functioning well–her epilepsy is well controlled, and she seems like a typical teenager,” Mel shares.
Sarah has a diagnosis, a support network, and a mother who never stopped fighting, yet Mel knows many families are still searching for answers.
“We were lucky to get a diagnosis, but so many families are still living their diagnostic journey. We need better solutions to diagnose rare diseases faster and more accurately.”
This is where the Centre for Population Genomics (CPG) is making an undeniable impact. Building on the cutting-edge genomic analysis that helped Sarah, CPG is transforming the diagnostic landscape, bringing hope that many other families will no longer endure years of uncertainty. The organization’s work is paving the way for faster, more accurate rare disease diagnoses—a game-changer for families like Mel’s.
“Sarah amazes me every day. Some days, she’s a typical teenager, listening to Taylor Swift albums on repeat. Other days, we face real challenges. But she is here, she is thriving, and that gives me hope—not just for her, but for every family still searching for answers.”
Sarah’s story is a testament to persistence, collaboration, and research. And thanks to organizations like CPG, the fight for better diagnostic tools continues. Because a diagnosis is not the end, it’s just the beginning.
While it may not always bring immediate answers, a diagnosis can open doors: to more personalised healthcare, access to clinical trials, informed family planning, and connection with a broader community. Most of all, it offers a sense of direction, understanding, and hope.
The work is far from over. For all the other Sarahs out there, advancements in medical research must continue—so they too can grow up enjoying their favourite Taylor Swift songs.