Projects we fund

Overview

Myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML) are rare, related cancers of the blood – together affecting around 90 children a year in the UK, who are unlikely to survive unless a stem cell transplant is possible. We don’t yet know why these diseases appear, and we urgently need to find out so we can explore options for treating and maybe preventing them. Previous research has shown that these children can have several different mutated genes, so their blood doesn’t develop normally. In most children, these mutations happen as part of the disease process. However, there are some rare examples MDS/AML, where multiple members of the same family have the disease, and these families are helping us to undertake crucial research to identify the genetic events that lead to the disease.

What difference will this project make?

This project aims to begin to address the significant need for new treatment approaches in MDS and AML. DNA sequencing technology now makes it possible to identify the crucial genetic mutations that cause these diseases. Dr Tom’s research team is in contact with 26 families with more than one family member affected by MDS or AML. In 10 of them they’ve already identified mutations in four different genes. By examining the genetic characteristics of the remaining 16 families; the team will search for genes that are mutated recurrently in the affected families but only very rarely in the normal population. They’ll follow-up on any such gene in two ways. Firstly, they’ll look to see if the same gene is mutated in a larger group of sporadic MDS/AML patients. Secondly, they’ll look into the functional consequences of the mutations in these genes. Not only will this work give an important insight to the underlying pathology of these two diseases, but improved classification should help to improve treatments. Ultimately, as well as helping to improve treatments for children diagnosed with these cancers, knowing more about why inherited diseases like these occur will enable doctors to test members of families with the affected genes before symptoms appear.