World-first program targets common genetic disorder

Blood tested in a lab
A world-first patient registry will advance research into a common genetic disorder. | Photo: Alvarez (iStock)

Australians with the country’s most common genetic disorder now have access to the world’s first cloud-based patent registry.

QIMR Berghofer Deputy Director Professor Grant Ramm said people with haemochromatosis could join the registry aimed at advancing research and understanding of the potentially life-threatening, inherited iron-overload condition.

Professor Ramm said the new Australian Haemochromatosis Registry would be an important national and global resource for clinicians and researchers, designed to improve therapeutic treatments and outcomes for people affected by the country’s most common genetic disorder.

“This registry will, in time, provide a substantial resource of de-identified clinical information and patient data that will help accelerate research and drive new discoveries against haemochromatosis, a condition affecting so many Australians,” Professor Ramm said.

QUT researcher Professor Nathan Subramaniam said increased iron accumulation was increasingly associated with many clinical conditions besides liver disease, including cancer and neurodegenerative disease.

“This important resource will be instrumental for Australian scientists and clinicians to perform ground-breaking research, not only into haemochromatosis but also associated diseases,” Professor Subramaniam said.

Learn more about the Australian Haemochromatosis Registry.