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Pioneering new treatments for leukaemia in children with Down syndrome

A team of world-leading scientists has secured $5 million in funding from the Leukaemia and Lymphoma Society to advance the fight against leukaemia in children with Down syndrome.

Dr Sébastien Malinge in a lab

A team of world-leading scientists has secured $5 million in funding from the Leukaemia and Lymphoma Society to advance the fight against leukaemia in children with Down syndrome (DS).

The funding will support four innovative projects that aim to develop better, less harmful treatments for these vulnerable kids. One of the participating researchers is Dr Sébastien Malinge from The Kids Research Institute Australia’s WA Kids Cancer Centre

Children with Down syndrome face a 20 times higher risk of developing leukaemia compared to other kids. This is due to their extra copy of chromosome 21 (trisomy 21), which plays a role in how their cells grow and divide. Children with DS who are diagnosed with leukaemia of the lymphoid lineage (named DS-ALL) are often not able to tolerate the treatments that work for other children. This can lead to high rates of relapse and severe side effects. These kids need treatments that are both effective and gentle, and that is where this research comes in. 

A global collaboration 

To tackle this issue, a specialised centre of research was established, bringing together 13 experts from across five  countries. Their goal is to understand the biology of leukaemia in children with DS and to develop new, targeted therapies with reduced side effects. The work is divided into four interconnected projects, each focusing on a different aspect of leukaemia in DS. 

The first project explores why children with DS are prone to a pre-leukaemia condition called transient abnormal myelopoiesis during foetal life, which can develop into full-blown leukaemia. The second project investigates why some cases of leukaemia in these children become resistant to chemotherapy, aiming to find new strategies to overcome this resistance. The third project is laying the groundwork for future clinical trials, testing new therapies that combine different treatment approaches. The final project, co-led by Dr Malinge and his Translational Genomics in Leukaemia team, is focused on understanding the close relationship between trisomy 21 and a specific gene that is mutated in more than 50 percent of cases, CRLF2, in the development of leukaemia. 

Unlocking new treatments 

Dr Malinge’s project is particularly exciting because it could lead to completely new ways of treating leukaemia in children with DS. The CRLF2 gene is often rearranged in these children. By studying how CRLF2 interacts with the pathways altered by trisomy 21, he hopes to find new targets for better and safer therapies. They’re performing drug screens and using cutting-edge technology, like gene editing, to explore these connections and test potential treatments in their unique DS-ALL models. If successful, this research could pave the way for clinical trials in the future. 

Beyond the lab 

Dr Malinge is passionate about improving leukaemia outcomes for children with DS. He has served on the board of the WA Down Syndrome Committee for four years, advocating for better support and care for children with DS. His work on this new project is driven by a deep desire to make a real difference in the lives of these kids, who deserve the best chance at a healthy future.The hope is that the findings from this research will lead to new, less toxic treatments that not only help children with Down syndrome but also benefit other children and young adults with leukaemia.