Genomics of Rare Disease (GRD) Registry

A national, participant-led research platform for Australians with a rare disease of known or suspected genetic cause, led by A/Prof Jodie Ingles and A/Prof Owen Siggs at the Garvan Institute of Medical Research (HREC 95179, Royal Children's Hospital).

• Recently funded by the Clive and Vera Ramaciotti Foundation: 2025 Ramaciotti Biomedical Research Award (https://www.perpetual.com.au/wealth-management/ramaciotti/ramaciotti-awards-and-recipients/)
• A national pathway to enrol monogenic cases for future research and further investigations.
• Increased representation of Australian communities currently missing from international genomic databases
• Returnable, research-grade relevant results, supporting diagnosis, counselling, and management

Who can be referred (Registry):

• Any age; alive or deceased (with next-of-kin consent)
• Resident in any Australian state or territory, or an Australian citizen
• Diagnosed with a rare disease (prevalence <1 in 500) of known or suspected genetic cause — or an at-risk family member
• No rare disease populations or conditions are excluded

Gene Discovery sub-study — for unsolved cases:

Registry participants with a high likelihood of a monogenic cause but no conclusive genetic diagnosis can be invited to a Gene Discovery Study, where research-grade whole-genome sequencing is applied to identify a cause. Clinically relevant findings are returned to the participant's treating clinician.

What participation involves:

• Online surveys at baseline and follow-up questionnaires
• A biospecimen (blood, saliva, or tissue) for the Gene Discovery arm
• A national pathway to enrol unsolved monogenic cases for further investigation
• Increased representation of Australian communities currently missing from international genomic databases

For more information, please visit here.

Genomics of Rare Disease
GRDRegistry_Recruitment_Flyers_V1