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Transforming lives

With your support, we can connect patients with advanced genomic sequencing and give them the genetic diagnosis they've been searching for.

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Individually rare, collectively common

Changes in our genome, or DNA sequence, can be inherited from our parents, and influence our risk of nearly every disease. In some diseases, many changes across many genes interact with our environment to cause disease, while rare genetic diseases can be caused by a single change in a single gene.

Although many rare diseases are rare at an individual level, their collective impact is significant. In Australia alone, an estimated two million people are living with a rare disease, yet less than half of all of these people have received a genetic diagnosis.

The journey to a genetic diagnosis can be an incredibly long and arduous one, with patients and families navigating a relentless cycle of specialist visits and invasive tests that often yield no conclusive results.

A genetic diagnosis is critical for providing certainty to patients and their families, and often directly influences how these diseases are treated. Discovering a new genetic cause of disease can help diagnose unsolved cases around the world, and inform the development of new treatments.

So many people with inherited diseases are suffering unnecessarily because they don’t have a genetic diagnosis. If we can get them an answer today, in some cases that can lead to a curative treatment tomorrow. So making that genetic diagnosis is a critical first step: it creates a real sense of urgency for everyone.
Associate Professor Owen Siggs, Co-Director, Genomics and Inherited Disease Program

Connecting rare and inherited disease patients with answers

While several million Australians are affected by rare disease as a whole, individual communities are often small and dispersed across the country. Most of these conditions are overlooked and under-researched, leaving patients isolated. Garvan’s Genomics of Rare Disease Registry, one of Australia’s first patient-led rare and inherited disease registries, will connect patients to the researchers and clinical trials they urgently need.

By gathering genetic information from patients with the same rare and inherited diseases across Australia and globally, the registry will help our researchers find genetic diagnoses for participants. From here, the team can connect them to personalised treatments or clinical trials that can transform their lives.

Connect patients with life-changing answers

Help revolutionise the diagnostic and treatment journey for people with rare and inherited diseases.Support this vital research today

Life-changing impact

Rosie inherited polycystic kidney disease (PKD) from her father. His kidneys stopped functioning when he was 54 and he passed away at 58. For a long time, Rosie says she had no hope.

"I saw my Dad’s life as what my life was going to be. Then I went to a seminar at Garvan about PKD and they said that in the future they might be able to slow down my disease or to turn off the gene. It gives me hope that Garvan is searching for the answers for my disease. I have hope that my son has a life that is not limited by PKD, even if he has inherited my kidneys."

Finding answers for families like Rosie’s starts with the Genomics of Rare Disease Registry, which will use genomics to accelerate diagnoses and open doors to pioneering research.

Help give patients like Rosie hope

Genomics of Inherited Disease Registry

If you or someone you know has a rare or inherited disease, please register your interest here.