Iron is an essential element and required for the normal functioning of cells and the survival of virtually all living beings. The level of iron in the body is thus regulated very tightly. Too much or too little iron in the body results in several diseases. Iron deficiency is associated with anaemia; excess iron is associated with iron overload disorder haemochromatosis, many cancers, and neurodegenerative disorders. In humans there is no effective mechanism for getting rid of excess iron.
The liver is responsible for controlling the level of iron in the body through its synthesis and secretion of the iron hormone hepcidin. This small peptide controls how much iron is absorbed from our diet and how much is recycled from the breakdown of red blood cells. The Hepatogenomics Research Group has a long track record of research into iron disorders, the molecules involved and the mechanisms of iron regulation, and has published extensively in this field.
The Group has developed an Iron Disorders NGS Panel which has been used to identify variations in genes that are associated with iron overload or deficiency in patients. In collaboration with our clinical collaborators we have identified many novel variants associated with cases of genetic hereditary haemochromatosis. This genetic iron disorder is associated with excess iron in the body and its accumulation in many organs including the liver, heart, pancreas, and pituitary are associated with diseases including liver cirrhosis, many cancers, diabetes, cardiomyopathy, hypogonadism, and arthropathy. The four projects that are part of the Iron Regulation Theme aim to investigate the relationship of the liver and iron-related diseases.