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Understanding how leukaemia develops in children with Down’s syndrome

In this study Professor Vyas will study how a genetic change some children with Down’s syndrome are born with, can cause leukaemia, and the steps involved in between.

The challenge

Children born with Down’s syndrome have a far greater risk of developing a type of leukaemia called acute myeloid leukaemia, compared to other children. 15 years ago, Blood Cancer UK-funded researchers identified a genetic change in children with Down’s syndrome which causes normal cells to turn cancerous. Professor Paresh Vyas and his team now want to understand this process further, to understand the early steps that trigger leukaemia in children with Down’s syndrome.

The project

As researchers already know that children born with Down’s syndrome, and a genetic mutation in a gene called GATA1, have an increased risk of developing leukaemia, they have the unique opportunity to look at how a genetic mutation seen at birth can cause leukaemia, and the steps involved in between.

To understand this, the team first want to identify exactly which kind of blood cells have this genetic mutation. This, they hope, will make it easier to identify children with Down’s syndrome who have this mutation and who are therefore more likely to develop leukaemia.

They will look at how the mutation changes the way the cells divide and grow, and whether it impacts on ‘young’ blood cells ‘maturing’ and becoming cells with a specific function.

The future

The team hope that understanding more about how the disease develops in children with Down’s syndrome, will help them to develop treatments to prevent the early stages of leukaemia from developing into an aggressive disease. They also hope that their understanding could also help them understand how leukaemia’s develop in other people.