Understanding how inherited genetic risks are triggered to become leukaemia

Meet the scientist

Professor Hamish Scott’s research interests lie in how to apply genetic technologies to understand diseases better, and to use this knowledge to improve diagnoses and treatment. He developed an interest in cancer research after studying the basic biology of Down syndrome - children with the condition are less likely to develop solid tumours but more likely to develop leukaemia. An important research breakthrough by Professor Scott was the discovery of an inherited genetic mutation that predisposes people to acute myeloid leukaemia.

The science

Acute myeloid leukaemia occurs when immature white blood cells divide uncontrollably within bone marrow. As the disease develops, these cancer cells can eventually be spotted in the blood. The Australian Familial Haematological Cancer Study has previously identified hundreds of families that carry an inherited genetic risk of blood cancer. By studying the DNA of these families, researchers have identified three specific genetic mutations that can lead to AML. These mutations cause problems in the way that blood cells are made or function, however researchers aren’t yet sure what triggers AML to develop in people who have these mutations.

Professor Hamish Scott and his team are using data from this study, which includes over 40 families with an inherited risk of AML, to understand what factors trigger the disease to happen. They aim to understand how environmental factors, bacterial or viral infections, and cell stress interact with the genetic risk to trigger AML. They hope that this will reveal new therapeutic targets that could interrupt this process, preventing leukaemia from developing in people with an inherited risk.