The RUNX1 effect – the impact of different mutations on AML

What if we knew exactly how each of the many known mutations of RUNX1 caused AML? Could this guide treatment decisions and ultimately improve survival?

Dr Sophie Kellaway, University of Nottingham, is investigating how different types of RUNX1 mutation drive AML and how this could better inform treatment decisions.

The challenge

Acute myeloid leukaemia (AML) is a type of blood cancer affecting almost 3,100 people every year in the UK – 8 people each day. One type of AML, which makes up 1 in 10 cases, is caused by a mutation in a gene called RUNX1.

The product of the RUNX1 gene is central in co-ordinating how blood cells are made. There are nearly 100 different mutations in RUNX1 which cause AML, but we don’t know if these all have the same effect, as response to treatment can vary.

This sub-type of AML has very poor survival across all age groups, so finding kinder, more effective ways to treat the disease is vital to stopping this type of leukaemia devastating lives.

The science behind the research

The RUNX1 gene has many different roles and some or all of these can go wrong when the gene is mutated. This makes it especially challenging to work out whether a treatment will work or to develop new treatments to replace traditional chemotherapy.

During her John Goldman Fellowship, Dr Kellaway will investigate how different types of RUNX1 mutation cause the instructions for making blood cells to go wrong and how this leads to AML.

The project will assess the role of each of these mutations in detail – highlighting similarities and differences and mapping out how they influence the development of AML.

Project information

Lead researcher

Dr Sophie Kellaway


University of Nottingham

Blood cancer type


Award type

John Goldman Fellowship

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What does this mean for patients?

It’s hoped that expanding understanding about the many different RUNX1 mutations will ultimately help doctors decide which of the currently available treatments will work best for each patient.

This research will also lay the groundwork for developing new personalised medicine for this type of AML, ensuring future patients get the best treatment for their specific disease.

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