Research projects

Understanding how inherited genetic risks are triggered to become leukaemia

Researcher
Professor Hamish Scott
Project period
Jan 2022 - Jan 2025
Country
Research Institute
University of South Australia
Cancer types
Leukaemia
Award amount
£248,702

Project aim

Professor Hamish Scott and his team are trying to understand how people with a genetic risk of developing certain blood cancers go on to develop the disease. They hope to understand how some inherited mutations are triggered by cell stress or other environmental factors to develop into leukaemia.

Hope for the future

In 2020, almost half a million people were diagnosed with leukaemia around the world. It is thought that around 10-15% of these cases could originate from a genetic risk, where someone inherits a faulty gene that makes it more likely that they will develop blood cancer at some point in their life.

Professor Scott and his team hope to discover what triggers the development of leukaemia, in particular an aggressive type called acute myeloid leukaemia (AML), when someone has inherited a faulty gene that puts them at risk. By studying how different factors influence blood cells and bone marrow, they hope to discover new ways of preventing people with an inherited risk from ever developing 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.

Almost 475,000 people around the world were diagnosed with leukaemia in 2020, and over 300,000 patients with leukaemia sadly died.

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