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.
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.
Anna Schuh is the Director of Molecular Diagnostics in the Department of Oncology and an honorary Consultant Haematologist at Oxford University Hospitals Trust. Her main research interests are with chronic lymphocytic leukaemia (CLL) and molecular diagnostics. She is a principle investigator on a number of early and late phase clinical trials in CLL and the Director of the Oxford NHS/BRC Molecular Diagnostics Centre (MDC). She receives grants from NIHR, Wellcome Trust and the Technology Strategy Board. She is an active member of the NCRN CLL subgroup she leads in the Genomics England 1000 CLL Genome programme.
Tapper W, Jones AV, Kralovics R, Harutyunyan AS, Zoi K, Leung W, Godfrey AL, Guglielmelli P, Callaway A, Ward D, Aranaz P, White H, Waghorn K, Lin F, Chase A, Baxter EJ, Maclean C, Nangalia J, Chen E, Evans P, Short M, Jack A, Wallis L, Oscier D, Duncombe AS, Schuh A, Mead AJ, Griffiths M, Ewing J, Gale R, Schnittger S, Haferlach T, Stegelmann F, Döhner K, Grallert H, Strauch K, Tanaka T, Bandinelli S, Giannopoulos A, Pieri L, Mannarelli C, Gisslinger H, Barosi G, Cazzola M, Reiter A, Harrison C, Campbell P, Green A, Vannucchi A, Cross NCP. Genetic variation at MECOM, TERT, JAK2 and MYB predispose to myeloproliferative neoplasms. Nat. Comms. 2015 Jan; accepted for publication
Hillmen P, Robak T, Janssens A, K. Bab G, Kloczko J, Grosicki S, Doubek M, Panagiotidis P, Christian C, Kimby E, Schuh A, R Pettitt AR; Boyd T, Montillo M, Gupta I, Wright O, Dixon I, Carey JL, Chang C-N, Lisby S, McKeown A, and Offner F on behalf of the COMPLEMENT 1 Study Investigators. Addition of ofatumumab to chlorambucil in previously untreated patients with chronic lymphocytic leukaemia: a randomised, open label phase 3 trial. THE LANCET 2015 Jan; accepted for publication
Eyre TA, Clifford R, Roberts C, Boyle L, Francis A, Schuh A and Dutton SJ. Single Arm NCRI Phase II Study of CHOP in Combination with Ofatumumab in Induction and Maintenance for Patients with Newly Diagnosed Richter's Syndrome. BMC Cancer, accepted for publication
Nicum S, Roberts C, Boyle L, Kopijasz S, Gourley C, Hall M, Montes A, Poole C, Collins L, Schuh A, Dutton SJ; 6MP Collaborative Group. A phase II clinical trial of 6-mercaptopurine (6MP) and methotrexate in patients with BRCA defective tumours: a study protocol. BMC Cancer. 2014 Dec 19;14(1):983.
David Bruce, Clinical Research Fellow
Richard Colling, Molecular Diagnostics Fellow
Mizani Tuba, Molecular Diagnostics Felllow