MRCPI FRCPath (Haem)
Health Education England Genomics Medicine Fellow
Dr Niamh Appleby graduated from the School of Medicine at Trinity College Dublin in 2007. She completed postgraduate haematology training in Ireland. Her interest in chronic lymphocytic leukaemia sparked an appetite for studying how specific changes in the leukaemia DNA (somatic mutations) predict clinical outcomes and inform treatment decisions. She completed additional training in diagnostic haematopathology in the UK.
Her career interests include molecular diagnostics and the application of genomic technologies to personalise cancer therapy. Niamh has been awarded one of the Health Education England Genomics Research and Innovation Fellowships to study highly sensitive methods to identify DNA mutations, including plasma circulating tumour DNA fragments in chronic lymphocytic leukaemia and lymphoma and the role of these mutations in influencing clinical outcomes.
Since joining Prof Schuh’s group in Oxford, Niamh played a central role in developing the study protocols and laboratory analysis plans for the Oxford Premalignant Lymphoproliferative Disorders (OxPLoreD) Study and the STELLAR clinical trial for Richters’ syndrome (high-grade transformation of chronic lymphocytic leukaemia).
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.
Robbe P. et al, (2022), Nat Genet
Cellular Therapy in High-Risk Relapsed/Refractory Chronic Lymphocytic Leukemia and Richter Syndrome.
Barbanti MC. et al, (2022), Front Oncol, 12
Genomic and transcriptomic correlates of Richter's transformation in Chronic Lymphocytic Leukemia.
Klintman J. et al, (2020), Blood
Comprehensive genomic testing for chronic lymphocytic leukaemia patients: WGS, one key to patient stratification
Ridout K. et al, (2020), LEUKEMIA & LYMPHOMA, 61, 167 - 168
Next-generation sequencing of TP53 mutations negates the need for FISH assessment in the investigation of TP53 aberrations
Catherwood MA. et al, (2020), LEUKEMIA & LYMPHOMA, 61, 197 - 198