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Genomics of Rare Disease Registry

A national registry aiming to better understand rare diseases and connect families with new research opportunities.

There are more than 7,000 known rare diseases, and approximately two million Australians living with a rare disease. Many of these rare diseases have unknown causes but are suspected to have a genetic origin.

The Genomics of Rare Disease Registry is part of a national study focused on understanding the genetic causes of rare diseases, with the goal to better understand, identify and manage them.

Through the registry, we aim to connect families affected by a rare disease to new research opportunities, including studies that can assist with finding a genetic diagnosis.

The registry will gather information from Australians who:

  • Have a rare disease with a known genetic cause
  • Have a rare disease with a suspected genetic cause
  • Are family members of people living with a rare disease

The registry is led by Associate Professor Jodie Ingles and Associate Professor Owen Siggs, co-Directors of the Genomics and Inherited Disease Program at Garvan Institute.

What does participation involve?

  • Informed consent that will give us access to your medical records
  • A 15-minute survey at the beginning of the study
  • Consent to be contacted about new research opportunities

If you have any questions about the registry or are unsure if your health condition is considered eligible, please contact us by completing the Expression of Interest form above or email us at

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

Connect patients with life-changing answers

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