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Precision Diagnostics


Chronic Lymphocytic Leukaemia

Non-invasive prenatal diagnosis

Anna Schuh

Director of Molecular Diagnostics

  • Honorary Consultant Haematologist

Research Summary

The aim of our research is to identify and technically validate molecular-based disease classifiers using clinical omics and to evaluate their utility for early cancer detection, risk stratification and therapy selection.


Professor Schuh has participated as a principal or chief investigator in over 50 early and late phase clinical trials  in chronic lymphocytic leukaemia. 

A number of these led to NICE approvals and have changed clinical practice for patients in the UK and worldwide. As a result, she was appointed as the Chair of Chronic Lymphocytic Leukaemia Research in the UK by the National Cancer Research Institute and to the board of the iwCLL.

In addition to these national and international roles, she chaired the UK CLL Forum from 2016 to 2019 that promotes training and education, and she led the UK's guidelines writing group for CLL Therapy on behalf of the British Society of Haematology. 

As the Director of the Oxford Molecular Diagnostics Centre (OMDC), her life-long research interest has been with the development, evaluation and implementation of new technologies for Precision Diagnostics in particular genomics. Her group published the first ever longitudinal whole genome sequencing study describing the changes in the genomic landscape of patients undergoing treatment for leukaemia.

The OMDC has been instrumental in establishing the ground work for the 100,000 Genome Project and Genomics England. It is one of the main clinically accredited translational laboratories in the country and  actively collaborates with national and international clinical study groups, pharmaceutical industry and biotech companies.

Thanks to her contributions to the field of clinical genomics, she was appointed as the Director of Molecular Diagnostics by the University of Oxford in 2014. She served as the Clinical Lead for the Oxford Genomics Medicine Centre from 2014 to 2017 and has led the Genomics England Clinical Interpretation Partnership for haematological malignancies. 

As a result of understanding of the complexity of the cancer genome increases, it becomes apparent that a paradigm shift in cancer care is needed to improve survival rates. One of the essential pillars of this effort has to be earlier diagnosis. This is apparent most strikingly in resource-limited settings but under-studied. In the last three years, her group has therefore been focussing on (1) identifying and evaluating biomarkers for early detection of B-cell malignancies from liquid biopsies collected as part of the OXPLORED study and (2) developing a liquid biopsy test for earlier diagnosis of EBV driven lymphomas in children in sub-Saharan Africa, the Aggressive Infection-Related East African Lymphoma (AI-REAL) Study.  (NIHR-Global Health-RIGHT).

Her group also developed and clinically validated the first method for non-invasive prenatal diagnosis of autosomal recessive disorders using haemoglobinopathies as a model (OUI patent filed).

She is the Director of the University's online part-time Master's Programme in Precision Cancer Medicine.

Professor Schuh receives grants from the NIHR, Wellcome Trust, Technology Strategy Board (now Innovate UK), Cancer Research UK and Blood Cancer UK. She has authored or co-authored over 260 peer-reviewed publications and over 80 in the last five years including high impact papers.



Niamh Appleby, Clinical Research Fellow, Health Education England/ Genomics England Genomic Medicine Fellow
David Bruce, Clinical Research Fellow, CRUK
Dr Adam Burns, Post-doctoral Researcher
Dr Anthony Cutts, Postdoctoral Researcher
Helene Dreau, MSc. Principal Clinical Scientist / Head of the NGS Core Facilities (Clinical).
Dr Laura del Carmen Lopez Pascua, Clinical Scientist with Bioinformatics
Dr Kate Ridout, High-throughput Sequencing Bioinformatician
Dr Dimitrios V. Vavoulis, High-throughput Bioinformatician

Key publications

Recent publications

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