Celebrating Rare Disease Day: Meet the JCSMR researchers at the frontline
February 28, 2025, marks the 18th annual Rare Disease Day, a time when researchers, industry leaders, policymakers, and the patient community come together to raise awareness and drive change for the 300 million people living with rare diseases.
This Rare Disease Day, we’re spotlighting some of the incredible researchers at JCSMR who are working to better understand, diagnose, and treat rare diseases. From genomics to personalised medicine, our researchers are driving discoveries that change lives.
Bringing cutting-edge diagnostics to patients
The newly established Canberra Clinical Phenomics Service (CCPS) is transforming how we diagnose and monitor rare immune and inflammatory disorders.
Currently, there are no accredited pathology tests for cytokines in Australia, making it challenging to diagnose certain inflammatory diseases and target drugs appropriately. For example, diagnosing myositis—a rare inflammatory neuromuscular disease that can cause significant disability—takes an average of five years.
With a $2.8M grant from the Medical Research Future Fund (MRFF) and additional support from the ACT Government and ANU, the Service is developing a clinical facility for specialised tests and analysis of human blood samples for markers of immune and inflammatory conditions.
“It will be exciting to bring cutting-edge research tests to the bedside to improve patient care,” says Associate Prof Katrina Randall, CCPS Director and the Clinical Director of Immunology at Canberra Health Services.
Learn more about the Canberra Clinical Phenomics Service
Personalising medicine for rare immune diseases
Associate Professor Simon Jiang and his team are leveraging functional genomics and phenomics to revolutionise how rare immune-mediated diseases are diagnosed and treated.
“Personalised medicine focuses on tailoring medical care to each individual, considering their unique genetic and biological make up,” explains Jiang, “This approach is especially important for treating immune-mediated diseases, many of which are very rare diseases and are chronic, recurring, and often difficult to diagnose and manage, leaving patients feeling hopeless.”
By uncovering the unique mechanisms behind conditions like systemic lupus erythematosus, inflammatory bowel disease, chronic kidney disease, and rheumatoid arthritis, the Jiang Group aims to develop targeted diagnoses and treatments, improving patient outcomes across Australia.
Beyond research, the group actively engage the patient community. In May 2024, Jiang hosted Empowering Patient Care through Genomics, a two-day event with the Phenomics Translation Initiative (PTI). Participants from the group’s studies shared their journeys with personalised medicine and discussed their firsthand experiences with other patients, clinicians and researchers, deepening the understanding of how personalised medicine research is directly transforming patient care and outcomes.
Learn more about the Jiang Group
Tackling rare ribosome disorders
When ribosomes—our cells' protein factories—become defective, ribosomopathies like Diamond-Blackfan Anemia (DBA), a rare bone marrow disorder, can take place.
For years, Associate Professor Amee George and colleagues have been searching for new therapeutic targets to treat bone marrow failure.
“To this end, we need to understand why mutations in specific ribosomal protein genes lead to bone marrow failure,” says George.
Using the state-of-the-art robotic and liquid handling facilities at the ANU Centre for Therapeutic Discovery, the George Group is uncovering how ribosomal mutations cause bone marrow failure.
They have tested thousands of approved drugs through drug repurposing screens, searching for new treatments for ribosomopathies.
Learn more about the George Group
Understanding platelets in rare blood disorders
Research by the Gardiner Group is helping refine diagnostic tools and improve clinical care for the thousands of Australians living with immune thrombocytopenia (ITP)—an autoimmune disorder affecting blood clotting.
ITP can cause a transient or long-term decrease in platelet numbers, placing patients at high risk of bleeding. While rare, the disease is the most prevalent autoimmune disorder involving blood cells, afflicting 2-5 in 100,000 children and 3 in 100,000 adults per year.
Focusing on the biochemical and molecular analysis of immune-based platelet disorders, the group is collaborating with The Canberra Hospital to combine breakthroughs in research with excellence in clinical medicine to improve diagnosis and enhance treatment strategies for chronic autoimmune blood disorders.
As the Scientific Head of the National Platelet Research and Referral Centre, Gardiner aims to establish a pre-treatment evaluation framework to guide clinical decisions and improve outcomes for patients in Australia and beyond.
Learn more about the Gardiner Group
Next generation of rare disease researchers
A PhD student studying rare diseases, Yanran Fan looks to unravel how dendritic cells, a type of antigen-presenting cells, contribute to rare immunodeficiencies.
Immunodeficiencies weaken the immune system, leaving patients highly vulnerable to infections. By shedding light on their causes, her research aims to improve both diagnosis and treatment.
“I will be satisfied knowing that my findings will one day form the stepping stone toward a more cohesive picture of what causes the immunodeficiencies or a formal therapy that will help combat them,” says Fan.