Genetic predisposition to myeloid disorders: When to analyze it?

Speakers: Jude Fitzgibbon

Professor Jude Fitzgibbon's research career has focused on understanding and translating information on the molecular pathogenesis of haematological malignancies. He received his BA in Genetics at Trinity College Dublin, before moving to London to complete his PhD studies at University College London. He is currently Chair in Personalised Cancer Medicine, at the Barts Cancer Institute in London, part of Queen Mary University of London where he has worked over the past 20 years and is a member of the AML and Lymphoma National Cancer Research Institute Science Sub-groups in the UK.

Focussing on inherited leukaemia, his group were first to report mutations in the transcription factor CEBPA in familial acute myeloid leukaemia (AML) (Smith et al., New England Journal of Medicine, 2004) most recently demonstrating that recurrence of disease in these patients represents de novo episodes of disease rather than true relapse (Tawana et al., Blood 2015). Indeed, he is at the forefront of efforts at both informing and developing guidelines on how to best manage these high risk group of patients and his most recent studies have highlighted GATA2 monoallelic expression underlying reduced penetrance in inherited GATA2-mutated MDS/AML (Al Seraihi et al., Leukemia 2018) and a landscape study identifying novel gene variants implicated in inherited myeloid malignancies (Rio-Machin et al., Nature Communications 2020).