Understanding why children with Down Syndrome are at risk of leukaemia

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.