Bright Red funded clinician Tom Creasy and his colleagues have recently had their research study published in the journal ‘Genes, Chromosomes and Cancer.
The study looked at a very high risk genetic subtype of acute lymphoblastic leukaemia – low hypodiploidy – where the leukaemic cells have lost a number of chromosomes. It can be difficult to identify because the chromosomes can “double-up” and can be mistaken for a different subtype (which has a much better prognosis).
Because of the high risk nature and need for bone marrow transplant, accurate diagnosis is critical. Tom and his colleagues used a technique called SNP array to design a machine-learning classifer to accurately diagnose this. In simple terms, the classifier looks at the relative content of specific chromosomes within a sample to create a genetic signature and correctly identify the subtype to ensure correct treatment is given. The article can be found here: https://doi.org/10.1002/gcc.22956
Tom was recently appointed as a consultant haematologist at the Freeman Hospital, a well-deserved promotion. When asked about his new role, Tom said he was excited to pursue the skillset and interest he has developed during his PhD in the genetic basis of blood cancers.