Centre for Genomic & Experimental Medicine
Centre for Genomic & Experimental Medicine

Bernard Ramsahoye Research Group

The Genetics and Epigenetics of Haematological malignancy

Section: Genomic Medicine

Research in a Nutshell

Dr Bernard Ramsahoye - Senior Lecturer and Hon Consultant Haematologist

There are two strands to my research


I study the role of DNA methylation and other chromatin modifications in gene transcription. The work is important because some malignancies are caused by mutations in genes that regulate the function of chromatin. However the precise mechanisms are unclear. For example mutations in the DNA methyltransferase DNMT3A are found in 20% of leukaemias, usually in association with other mutations. But DNMT3A may also be mutated in people with normal-looking haematopoiesis where is appears to confer a growth advantage to haematopoietic stem cells without making them leukaemic. How does DNMT3A mutation collaborate with other mutations to cause leukaemia?

Mutation detection

I have been developing Next Generation Sequencing methods for the diagnosis and management of haematological disease. One such method enables the reliable detection of low-level BCR-ABL kinase domain mutations in patients with chronic myeloid leukaemia (CML) who are on therapy with tyrosine kinase inhibitors (TKI). The sensitive detection of such mutations is important in the management of CML as the mutations cause the drugs to be less effective causing patients to relapse whilst on therapy. A full knowledge of all of the low level mutations that are present at relapse enables better selection of an alternative tyrosine kinase inhibitor.



Dr Bernard Ramsahoye Group Leader
Lloyd Bibby Student




  • Professor Adrian Bird, University of Edinburgh
  • Dr Irina Stancheva, University of Edinburgh
  • Professor Stephen O’Brien, Newcastle University
  • Dr Tim Chevassut, University of Sussex

Partners and Funders

  • Ariad Pharmaceuticals

Scientific Themes

Epigenetics and leukaemogenesis.

Technology Expertise

DNA methylation, Chromatography and Next Generation Sequencing.