Recruiting now: Australian study to uncover genetic cause of rare diseases

Researchers at the Garvan Institute of Medical Research have launched the Genomics of Rare Disease Registry, to help improve diagnoses and treatment options for the estimated two million people who live with a rare disease in Australia.

The registry is recruiting Australians with a known or suspected rare genetic disease as part of a national study focused on understanding their underlying cause, and is led by Associate Professor Jodie Ingles and Associate Professor Owen Siggs, Co-Directors of the Genomics and Inherited Disease Program at Garvan. Through the registry, the researchers aim to pinpoint the genetic cause of rare diseases, making it possible to connect those affected to future research studies, clinical trials of new treatments, and to one another.

There are more than 7,000 known rare diseases, which by definition affect fewer than 5 in 10,000 people. They can affect any organ, including the brain, eyes, heart, kidneys, and immune system, with examples including Huntington’s disease and retinitis pigmentosa. The vast majority of rare diseases are genetic, and while an estimated 8% of Australians live with a rare disease, less than half of those affected receive a genetic diagnosis. Targeted treatments are only available for less than 10% of patients.

Associate Professor Siggs says: “For many families with a rare genetic disease, the journey to a diagnosis can be long and arduous, with patients and families navigating multiple specialist visits and tests that are often inconclusive. Many patients are suffering unnecessarily because they don’t have a clear genetic diagnosis. If we can get them an answer today, in some cases that can lead to a targeted treatment tomorrow.”

Associate Professor Ingles says: “Understanding the genetics of a rare disease can be transformative for patients. For example, for patients with inherited cardiomyopathies, which affect the heart muscle, understanding the genetic basis gives options to understand who else in the family is at risk, and will likely enable gene-specific therapies in future. We are working towards a future where every rare disease can be diagnosed and treated.”

The registry will gather information from Australians (and their family members) who have a rare disease with a known or suspected genetic cause.

Participation in this research involves completing a 15-minute survey, providing consent to access medical records and be contacted about new research opportunities.

Express your interest to join the registry here.

Associate Professor Owen Siggs and Associate Professor Jodie Ingles are Conjoint Associate Professors at St Vincent's Clinical School, Faculty of Medicine and Health, UNSW Sydney.

This study has been approved by the Royal Children’s Hospital (Melbourne) Human Research Ethics Committee (HREC) reference number 95179.

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