The Hepatogenomics Research Group has a long-standing interest in understanding and identifying the molecular basis of iron disorders in patients. We work collaboratively with many of our clinical colleagues to perform molecular studies which will instruct us and patients as to the potential cause of iron disorders. These include whole-exome sequencing, targeted panel sequencing and functional genomics studies to understand the consequences of novel variants of unknown significance (VUS).
The Group has developed an Iron Disorders NGS Panel which has been used to identify variations in genes that are associated with iron overload in patients. In collaboration with our clinical collaborators we have identified many novel variants associated with cases of genetic hereditary haemochromatosis.
This targeted panel can be used to interrogate the complete DNA sequence of 41 different genes and 10 promoter regions implicated in the regulation of iron metabolism. This panel is currently used as a research tool to help us understand the natural history of non-HFE haemochromatosis and identify variants in patients with iron disorders.
Please contact Professor Nathan Subramaniam via the Contact Us page, should you wish to participate in this research project or need more information.