People with haemochromatosis now have the opportunity to join the world's first cloud-based patient registry aimed at advancing research and understanding of the potentially life-threatening, inherited iron-overload condition
Launched today, the new Australian Haemochromatosis Registry will 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.
QIMR Berghofer Deputy Director, Professor Grant Ramm, who has devoted his career to researching haemochromatosis, is part of a collaborative group of clinicians and researchers who helped Haemochromatosis Australia develop the patient registry. He believes it will be a game changer for scientists studying haemochromatosis and iron.
"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.
"It will also support research into the role of iron in chronic health conditions including liver disease, arthritis, diabetes and heart conditions, and provide opportunities for future research on the impact of iron on the brain."
Focussed on researching iron overload disorders for more than 25 years, QUT Professor Nathan Subramaniam, Deputy Director of the QUT Centre for Genomics and Personalised Health, said increased iron accumulation is 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 groundbreaking research, not only into haemochromatosis but also associated diseases," he said.
Samuel Dawes who has haemochromatosis and is a committee member of Haemochromatosis Australia, said the new patient registry will be an essential tool in better understanding the disorder and its progression.
"We hope the registry will lead to better research and better patient outcomes, ultimately reducing the health impacts and financial burden of haemochromatosis. As someone with the condition, I believe the registry will help me to better understand how haemochromatosis could impact future generations of my family and how best to manage my condition as I age," Mr Dawes said.
Curtin University's Professor John Olynyk said the national registry will open up new possibilities, such as larger studies, more clinical research projects and the recruitment of patients to trial potential new therapeutic approaches or treatments across Australia.
"The creation of this register is a great example of how consumers, researchers, clinicians and individuals afflicted by a disease, can partner together to develop systems which improve care and provide research platforms for the future."
To register, people with haemochromatosis simply need to answer a general health questionnaire online. Researchers can apply for access to the registry's de-identified data for consideration by a Haemochromatosis Australia Research Approval Committee.
The new resource is the world's first cloud-based haemochromatosis registry, allowing secure management of data, easier information gathering, and improved sharing and collaboration on research projects. It builds on a legacy database of 4,000+ haemochromatosis patients established by esteemed hepatologist and former QIMR Berghofer Director Professor Lawrie Powell during his 45+ years of clinical practice. Professor Powell's database is operated and maintained by QIMR Berghofer and continues to be a highly valuable resource for clinicians and researchers.
Haemochromatosis is an inherited condition which causes the body to absorb too much iron from the food you eat. Around 1 in 200 Australians of northern European descent are at high genetic risk of developing haemochromatosis, making it the most common genetic disorder in Australia. Fortunately, haemochromatosis can be treated by regular blood donation, highlighting the importance of early detection and lifelong monitoring in minimising the risk of serious disease, including severe arthritis, liver scarring (fibrosis), cirrhosis and liver cancer.
Funded by the Australian Department of Health and Aged Care, the registry is a collaborative project between Haemochromatosis Australia, QIMR Berghofer Medical Research Institute, QUT, Edith Cowan University and Curtin University, with support from Australian Red Cross Lifeblood and Hunter Medical Research Institute.
To register or learn more, visit the Australian Haemochromatosis Registry.
Main image: Photo by fizkes/Getty Images
