His laboratory fully supports the project, with their sequencing, molecular and bioinformatics expertise. They provide epigenetic analysis technologies (DNA Methylation, Hydroxy methylation, ATAC-Seq) to analyse cases with B-cell lymphocytosis.

With local and international collaborators, they study the signalling in cases with early clonal disease, by utilizing B-cell receptor engagement and down-stream Omics analysis, to catalogue the signalling properties in these cases. This help to identify clonal populations that are likely to progress, where a patient may require treatment or closer monitoring.

This include running the experimental work and performing integrated bioinformatic analysis.

Professor Jonathan Strefford is a Professor of Cancer Genomics, and an Honorary NHS Clinical Scientist, his research is translational and spans genomic screening, diagnostic methods as well as molecular mechanisms. His focus is on the application of massively parallel sequencing approaches to dissect the human genome and its epigenetic regulation. They exploit these findings to develop novel biomarkers that help predict the disease course in cancer patients.

His research focuses on the study of a number of mature B-cell neoplasm, in particular chronic lymphocytic leukaemia (CLL) and splenic marginal zone lymphoma (SMZL) and to a lesser extent follicular (FL) and diffuse large b-cell lymphoma (DLBCL). The research projects coordinated by Professor Strefford runs from biomarker discover, using a plethora of genomics approaches, to biomarker validation employing large international patient cohorts, to functional analysis, employing in vitro and in vivo model systems.

His research group is interested in the analysis of the genome and epigenome of mature B-cell tumours. Over three billion base-pairs of deoxyribonucleic acid (DNA), bound with accessory proteins in the form of chromatin, are super-coiled and packed into 23 autosomal and sex-determining chromosomes, constituting the human genome, the genetic blueprint for normal human development and cellular function.

A leukaemic cell, in addition to carrying this diploid genome that has been inherited from both parents, has also acquired a series of somatic genomic lesions, including base-pair mutations, chromosomal rearrangements and large-scale copy number alterations (CNAs). Epigenetic defects in the form of disordered DNA methylation, chromatin remodelling and dysregulation of small noncoding micro-ribonucleic acids (miRNAs) are also present.

The acquisition of these (epi)genomic defects can enable many of the hallmarks of leukemogenesis, such as the promotion of proliferative signalling, the evasion of growth suppression and the resistance to apoptosis. His laboratory work has involved the identification and characterisation of these defects, and these insights have helped them understand the leukemic process, improving cancer diagnosis, accurate risk-adapted stratification and the development of targeted treatments for precision medicine.

The laboratory works on a number of B-cell tumours, principally chronic lymphocytic leukaemia (CLL) and splenic marginal zone lymphoma (SMZL), and to a lesser extent follicular (FL) and diffuse large b-cell lymphoma (DLBCL).

In CLL, they have identified, or help characterize many of the recurrently mutated genes emerging from recent high-throughput sequencing studies. They continue to be at the centre of large international collaborative studies, mapping the CLL genome and assessing the clinical importance of gene mutations. In SMZL, they published one of the seminal studies identifying KLF2 as a target of novel recurrent gene mutations. They currently lead a large international study investigating the importance of somatic mutations and DNA methylation changes in SMZL.