My research group works on molecular pathology, genetics and progression of leukaemia and lymphomas, aiming to improve on current diagnostic, prognostic and treatment strategies.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun (2020) 11(1):1044. PMID: 32098966
Follicular lymphoma. Nat Rev Dis Primers (2019) 5(1):83. Review. PMID: 31831752
Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. Nat Genet (2016) 48(2):183-8. PMID: 26691987
Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma. Nat Genet (2014) 46(2):176-81. PMID: 24362818
In lymphoma our focus is a B cell malignancy called follicular lymphoma and the (epi)genomic changes responsible for the onset and severity of the disease. Although these tumours are chemo-sensitive, the disease is incurable, with many patients experiencing several episodes of relapse before the disease becomes refractory to treatment. We have traced the genetic changes in these tumours over time and uncovered a highly complex pattern of tumour evolution, consistent with the existence of a common progenitor B cell (CPC) population from which each new episode of disease is thought to arise. Current studies are focusing on characterising this CPC population and the use of KDM5 inhibition as a means of subverting the effects of mutations in the histone methyltransferase, KMT2D, that arise in >70% of FL tumours.
In leukaemia we have a longstanding interest in the study of familial acute myeloid leukaemia (AML) and myelodysplasia. These studies are important both to the individual families and are providing new insights into the molecular evolution of AML, the patterns by which mutations arise and an explanation for the clinical heterogeneity that exists both within and between families. We also have a parallel programme in poor risk AML where outcomes have changed little over the past 40 years, and are following a multi-omic strategy to profile these AMLs and gain a deeper understanding of the disease in this group of patients.
Watch below: Professor Jude Fitzgibbon gives an overview of the NCRI Lymphoma Science Subgroup
Drug ranking using machine learning systematically predicts the efficacy of anti-cancer drugs Gerdes H, Casado P, Dokal A et al. Nature Communications (2021) 12(7)
KDM5 inhibition offers a novel therapeutic strategy for the treatment of KMT2D mutant lymphomas Heward J, Konali L, D'Avola A et al. Blood (2021) 138(7) 370-381
The RUNX1 Database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy. Homan CC, King-Smith SL, Lawrence DM et al. Haematologica (2021) (2)
Germline ETV6 variants: Not ALL created equally Rio-Machin A, Fitzgibbon J Blood (2021) 137(7) 288-289
Generation and Surgical Analysis of Genetic Mouse Models to Study NF-κB-Driven Pathogenesis of Diffuse Large B Cell Lymphoma Maybury BD, Saavedra-Torres Y, Snoeks TJA et al. (2021) 2366(7) 321-342
Molecular genetics in indolent lymphomas Fitzgibbon J, Weigert O (2021) (7) 5-20
Inherited Myeloid Malignancies Fitzgibbon J EUROPEAN JOURNAL OF HUMAN GENETICS (2020) 28(11) 17-17
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants Rio-Machin A, Vulliamy T, Hug N et al. Nature Communications (2020) 11(7)
Integration of Deep Multi-Omics Profiling Veals New Insights into the Biology of Poor-Risk Acute Myeloid Leukemia Rio-Machin A, Casado-Izquierdo P, Miettinen J et al. Blood (2020) 136(10) 39-40
Systematic Evaluation of Somatic Cis -Regulatory Mutations in Follicular Lymphoma Uyulur F, Bewicke-Copley F, Anene CA et al. Blood (2020) 136(10) 26-27For additional publications, please click here
I joined Barts and the London Medical School as a Research Fellow in Medical Oncology in 1997, becoming Senior Lecturer in 2004, Reader in 2009 and Professor in 2013. I received my BA degree in Genetics at Trinity College Dublin in 1989 before completing my PhD studies on the Genetics of Tuberous Sclerosis at University College London in 1993.