Complete

Understanding why children with Down Syndrome are at risk of leukaemia

Cancer types:

Leukaemia

Project period:

Research institute:

Fondazione Centro San Raffaele

Award amount:

£223,735

Location:

Italy

Researcher Dr Andrea Ditadi

Dr Andrea Ditadi is studying stem cells to work out why children with Down's Syndrome are more at risk of developing leukaemia.

Meet the scientist

Dr Andrea Ditadi is a group leader in the Human Hematopoietic Development and Disease Modeling Unit at Fondazione Centro San Raffaele in Italy. His research so far has contributed to key discoveries in how blood cells are created by our bodies during development. 

The science

Down Syndrome is a genetic disorder caused by an additional copy of the chromosome 21. The disorder is estimated to effect 1 in every 1000 live births worldwide. Children with Down Syndrome are at greater risk of developing blood cancers, but the underlying biological mechanisms for this are unclear. In particular, the incidence of a type of blood cancer called acute megakaryoblastic leukaemia (AMKL) is 500 times more prevalent in children with Down Syndrome. 

Dr Andrea Ditadi and his team based at Fondazione Centro San Raffaele, Milan, Italy, propose to uncover this mystery by carrying out in-depth studies on pluripotent stem cells – the cells that “give birth” to all the cell types in our body. By studying these cells they want to find out how the cells of the blood system develop in Down Syndrome and use this to identify the cells responsible for AMKL development. This fundamental understanding of the biology behind this phenomenon will ultimately lead to new ways to diagnose and treat AMKL. 

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