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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.
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.
Leave no one behind
“Immune diseases can cause recurrent infections, multiple hospitalisations – and a shortened lifespan. But there’s such disparity in funding. This means that as medical knowledge advances, people with rare immune diseases are rapidly being left behind.”
– Associate Professor Elissa Deenick