Improving the diagnosis and management of blood problems in babies with Down’s Syndrome

Updated 17 Jan 2018
Lead researcher - Professor Paresh Vyas and Professor Irene Roberts, University of Oxford
Down’s Syndrome associated preleukaemia and leukaemia
Amount awarded: £1,378,340
Award start date: 01 Aug 2013
Recruitment start date: 13 Jul 2017
Award duration: 5 years

Professors Vyas and Roberts are working to find out how chromosome 21 affects blood cell production in the womb, and what genetic events are important for leukaemia to form. Researchers will use this information to develop treatment strategies, potentially preventing AML from even starting.

Children with Down’s Syndrome (DS) have a markedly increased risk of acute myeloid leukaemia (AML). Some of these children develop a ‘preleukaemic condition’ called TAM that can herald later development of AML.  The initiation of leukaemia in DS starts in foetal life (like other childhood leukaemias) in blood cells with an extra chromosome 21 (T21). When these cells acquire an abnormality (mutation) in another gene important for blood cell production (GATA1) this causes development of TAM. In some young children with TAM additional, as yet unknown, events transform TAM cells to AML cells. We are studying why having T21 perturbs foetal blood cell production, why abnormalities in GATA1 are important and finally which additional genetic events precipitate leukaemia. Through this work we hope to improve the diagnosis and management of blood problems in babies with DS and even to prevent AML developing later on.