Niamh Appleby

Niamh is an Irish haematologist based in the Oxford Molecular Diagnostics Centre. She graduated from the School of Medicine at Trinity College Dublin, completed postgraduate haematology training in Ireland and additional training in diagnostic haematopathology.

Her interests include molecular diagnostics and the application of genomic technologies to personalise therapy. Niamh has been awarded one of the Health Education England Genomics Research and Innovation Fellowships for her project “Development and Evaluation of the clinical utility of plasma-based ultra-sensitive detection methods for high risk chronic lymphocytic leukaemia and lymphoma”.

Specific somatic mutations changes in the leukaemia DNA (somatic mutations) predict clinical outcomes and inform therapeutic decisions. Somatic mutations arising in lymph nodes are thought responsible for relapse, treatment-resistance and RS but previous studies concentrated on leukocyte DNA. Studying plasma circulating tumour DNA (ctDNA) offers a biopsy-free method to detect somatic mutations. Plasma ctDNA from lymph node, marrow and leukocytes will provide a more complete picture of CLL somatic mutations than cellular DNA alone.