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Individually rare, collectively common

Many Australians suffer from immune system diseases. Some of these disorders are incredibly rare, such as primary immunodeficiency disorders (PIDs), some of which only affect a handful of people worldwide. But there are more than 400 PIDs, in addition to hundreds of other diseases of the immune system. Cumulatively, immune diseases represent a very significant burden on the healthcare system, with as many as 1 in 10 people affected.

The impact on patients can be devasting: chronic disability, ill health and shortened lifespan. While medical knowledge is advancing rapidly in many fields, funding for rare disease research is extremely limited. Many patients still struggle to access an accurate diagnosis and effective treatment.

Striving to transform the diagnosis and treatment of immune diseases.

Currently, most treatments for immune disease are reactive rather than proactive and focus on preventing infections and lowering inflammation. Not all patients respond well to treatment, and some experience severe side effects.

There is an urgent need for effective treatments that target the underlying causes, rather than managing symptoms. Garvan’s Precision Immunology Program is striving to transform this approach by deepening our understanding of the cellular, molecular, and metabolic drivers of immune system disease.

We are already making great strides in understanding the mechanisms behind immune diseases. Our goal is to develop new diagnostic approaches and more effective precision treatments tailored to each patient's specific genomes and disease drivers.

This pioneering research is already delivering powerful new insights that could ultimately enable millions of Australians to live longer, healthier lives.

Immunology is everything in medical research. Your immune system is connected to every single developmental process in your body. It saves your life every minute of every day – and it can kill you in an hour.

Professor Benjamin Kile – Executive Director, Garvan Institute of Medical Research

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Powerful new insights into the causes of rare immune diseases

Earlier this year, Associate Professor Elissa Deenick, co-lead of our Precision Immunology Program, published the findings of a groundbreaking study that unveiled key genetic insights into the causes of an extremely rare primary immunodeficiency disorder known as APDS. APDS patients suffer from severe and frequent respiratory infections, autoimmune disorders, and lymphoma. Currently, the only cure for this disease is difficult, expensive, and extremely risky. This research is a significant step towards developing more targeted and effective treatments for APDS, which could make a considerable difference in the lives of people living with this disease. Additionally, these advancements could be applied to a wide range of immune system diseases, helping millions of Australians.

Since the two APDS variants (APDS1 and APDS2) share similar symptoms, for a long time they were assumed to share the same or similar disease mechanisms. What Associate Professor Deenick and her team have discovered is that they are each caused by distinct genetic variations that disrupt immune cell signalling in different ways, impacting both the quantity and function of immune cells (T and B cells).
T and B cells are integral to a healthy immune response, with specific T cells aiding B cells in antibody production. The study revealed that in APDS2, T cells are less effective. In APDS1 both their effectiveness and quantity are diminished, affecting B cell quality.
By deepening our understanding of these molecular processes, we can work towards developing more precise and effective treatments that could transform the lives of people living with APDS.
As commonly seen in rare disease research, this study's findings have significant potential beyond rare immune diseases. Some patients with APDS were originally misdiagnosed with lupus, as both diseases can disrupt immune system function in similar ways. While APDS is considered a rare immune disease, lupus is relatively common, affecting more than 20,000 Australians.
If we can develop treatments that target the specific drivers of APDS, there’s the potential to offer those life-changing treatments to patients with other autoimmune diseases who present with the same signatures.