Anna Schuh

Oxford Molecular Diagnostics Centre

The aim of our research is to identify molecular-based disease classifiers using clinical omics to underpin precision medicine approaches to be used for the selection of patients for the appropriate therapy.

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Research Summary

As the Director of the Oxford NHS/BRC Molecular Diagnostics Centre (MDC), Anna Schuh leads on a translational research programme for the development, validation, standardisation and evaluation of clinical utility of next generation technologies and clinical omics. Her laboratory has developed the first fully certified next generation sequencing multi-gene panels for use in NHS diagnostics of cancer and a number of haematological malignancies.

The MDC has been designated an NHS England Genomic Medicine Centre and partners with Genomics England in the implementation of whole genome sequencing technology to provide NHS diagnostics.  A particular focus of the laboratory is to define molecular-based disease classifiers for cancers and haematological malignancies that underpin precision medicine approaches including risk stratification and rational treatment design.

Using samples from national National Cancer Research Network (NCRN) clinical trials, her group is also interested in the evaluation of the clinical utility of whole genome sequencing and was first to publish longitudinal studies of whole genome sequencing (WGS) from chronic lymphocytic leukaemia (CLL) patients undergoing treatment. A current focus of the laboratory is to further characterise hyper-mutated non-coding region in the CLL genome and to examine total RNA expression in CLL.

In her role as the clinical lead for CLL and other lymphoproliferative disorders for the Academic Health Science Network, Anna is a Chief or Principle Investigator on a number of early and late phase clinical trials that are currently undergoing review by the National Institute for Health and Care Excellence (NICE), which are likely to change clinical practice for treatment of relapsed CLL patients worldwide. She also has a particular clinical focus on Richter’s Syndrome (high grade transformation of CLL) and is the Chief Investigator on the first ever Phase 2 clinical trials for this rare patient group.

Figure 1: Genome-wide clustering reveals changes in mutation profiles. (A-C) Grouping of somatic mutation profiles for all single nucleotide variants (SNVs). Absolute white blood cell (WBC) and lymphocyte (LY) counts are shown at the top of each figure. The bottom panels show genome-wide SNV frequencies plotted against the 5 time points. Mutation profiles for coding genes are shown as black lines. 


Professor Anna Schuh is the Director of Molecular Diagnostics at the University of Oxford and an Honorary Consultant Haematologist. She has participated as a principle or chief investigator in over 30 early or late phase clinical trials in chronic lymphocytic leukaemia. A number of these led to subsequent NICE approvals and have changed clinical practice in the UK and worldwide. As the Director of the Oxford NIHR Molecular Diagnostics Centre (MDC), she receives grants from the NIHR, Wellcome Trust, Technology Strategy Board and Bloodwise. Her primary research interest is with the development, evaluation and implementation of new technologies for precision diagnostics with a particular focus on genomics. She leads the Genomics England Clinical Interpretation Partnership for Haematological Malignancies on behalf of the NCRN clinical investigators and has authored or co-authored over 80 peer-reviewed publications in the last five years.



Robbe P, Popitsch N, Knight SJL, Antoniou P, Becq J, He M, et al. Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project. Genetics In Medicine. 2018

Chanan-Khan AA, Zaritskey A, Egyed M, Vokurka S, Semochkin S, Schuh A, Kassis J, Simpson D, Zhang J, Purse B, Foà R. Lenalidomide maintenance therapy in previously treated chronic lymphocytic leukaemia (CONTINUUM): a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet Haematol. 2017 Nov;4(11):e534-e543

Cutts, A., Venn, O., Dilthey, A., Gupta, A., Vavoulis, D., Dreau, H., Middleton, M., McVean, G., Taylor, JC., Schuh, A. (2017). Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA. npj Genomic Medicine, 2(25), 1-8.

Eyre TA, Schuh A. An update for Richter syndrome - new directions and developments. Br J Haematol. 2017 Aug;178(4):508-520. doi: 10.1111/bjh.14700.  Epub 2017 Apr 25. Review. PubMed PMID: 28439883.

Purshouse K, Schuh A, Fairfax BP, Knight S, Antoniou P, Dreau H, Popitsch N, Gatter K, Roberts I, Browning L, Traill Z, Kerr D, Verrill C, Tuthill M, Taylor JC, Protheroe A. Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001362. doi: 10.1101/mcs.a001362. PubMed PMID: 28487881; PubMed Central PMCID: PMC5411692.

Vavoulis DV, Taylor JC, Schuh A. Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data. Bioinformatics. 2017 May 31. doi: 10.1093/bioinformatics/btx355. [Epub ahead of print] PubMed PMID: 28575251.

Buchanan J, Wordsworth S, Clifford R, Robbe P, Taylor JC, Schuh A, Knight SJL. Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis. Pharmacoeconomics. 2017 Jul 31. doi: 10.1007/s40273-017-0519-z. [Epub ahead of print] PubMed PMID: 28762015.

Burns A, Alsolami R, Becq J, Timbs A, Bruce D, Robbe P, Vavoulis D, Cabes M, Dreau H, Taylor J, Knight SJL, Mansson R, Bentley D, Beekman R, Martín-Subero JI, Campo E, Houlston RS, Ridout KE, Schuh A. Whole genome sequencing of chronic lymphocytic  leukemia reveals distinct differences in the mutational landscape between IgHV(mut) and IgHV(unmut) subgroups. Leukemia. 2017 Jun 6. doi: 10.1038/leu.2017.177. [Epub ahead of print] PubMed PMID: 28584254.

Associated Researchers



Group Members

Clinical Trials

Chief Investigator:
Phase II single arm multi-centre NCRI feasibility study of CHOP combined with Ofatumumab in induction and maintenance for patients with newly diagnosed Richter’s syndrome
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