Leukaemia gene breakthrough by IMVS researchers

A blood cancer gene defect that runs in families has been discovered by Professor Hamish Scott and his team from the Centre for Cancer Biology at IMVS Pathology.

In this important breakthrough, they have identified genetic mutations in the GATA2 gene, which predispose some people to developing myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML).

As featured in an article in Adelaide Now (September 5, 2011), this discovery is expected to dramatically improve survival of at-risk patients by identifying, monitoring and treating them earlier, and a clinical trial is currently underway in the US to identify treatment recommendations.

Genetic testing is already available through IMVS Pathology to determine if a family carries the GATA2 mutation, and is particularly valuable for acute myeloid leukaemia because it can be fatal within weeks if not diagnosed early.

The full research paper has been published in the prestigious journal Nature Genetics.