Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Accept all cookies Reject all non-essential cookies Find out more

Genetics, Genomics and Genome Biology

Employing a range of genetic techniques, we probe the fundamental causes of disease. Our expertise spans identification of causative genes in rare inherited diseases, through to elucidating complex gene regulatory pathways and exploration of susceptibility to common disease through genome-wide association studies. We use cutting edge techniques to manipulate the genome to determine how particular genes work and study how variants in regulatory DNA may contribute to common disease. An important overall aim is to improve the management of human genetic diseases.

© CSynth
DNA interactions visualised using CSynth software.

Our work in this theme directly inputs into genetic diagnostics within the Oxford University Hospitals and beyond and we support a number of nationally leading specialist services. We lead the NIHR Oxford Biomedical Research Centre’s Genomic Medicine Theme.



Groups within this theme

We study the molecular mechanisms involved in disease initiation and progression in the myelodysplastic syndromes (MDS) in order to better understand disease pathogenesis and to identify new therapeutic targets and prognostic markers for this disorder.
Boultwood Group: Blood Cancer UK Molecular Haematology Unit
Cancer target identification and development
Chapman Group: Recombination mechanisms in immunity and cancer
Chapman Group: Recombination mechanisms in immunity and cancer
We are primarily interested in understanding how the genome functions and to leverage this to develop novel genome editing based cellular therapies
Davies Group: Genomics and Clinical Genome Editing
We study the embryonic origins of blood stem cells with the aim to inform the generation of these cells in culture, and ultimate produce clinically relevant blood stem cells for therapeutic purposes.
de Bruijn Group: Developmental Haematopoiesis
Defining the function of new causal atherosclerosis genes from CAD GWAS loci using in vitro and in vivo models.
Douglas Group: Functional coronary artery disease genetics
We research genetic diseases of the heart (cardiomyopathies) that can lead to sudden cardiac death. An example of an individual with cardiomyopathy is the professional football player Fabrice Muamba, who collapsed on the pitch and had to be resuscitated. He was fortunate to survive his cardiac arrest and his case was featured in the media.
Gehmlich group: Biomechanical stress signalling in the heart and its role in cardiomyopathies
We have performed a number of genome-wide association analyses and meta-analyses on different case/control phenotypes and quantitative traits. After discovering genetic loci, our main interest is to refine the locus for causal variants using different computational approaches and integrating epigenetic data. We also have experience in rare variant data analysis from whole genome sequencing data.
Goel Group: Cardiovascular genetics and bioinformatics
We are using a human genetic approach that relies on the latest developments of Next Generation Sequencing technology to study the intimate relationship that exists between the occurrence of new mutations and the regulation of cell fate choices in the male germline. Because life-long production of sperm is supported by regular divisions of so-called spermatogonial stem cells, each one of us acquire ~30-100 new mutations in our genome, the majority of which is paternal in origin.
Goriely Group: Clinical genetics
We use state-of-the-art laboratory and computational approaches to understand how mammalian genes are switched on and off during development and differentiation and how this goes awry in human genetic diseases.
Higgs Group: Laboratory of Gene Regulation
Using genomics, computational and synthetic biology approaches to understand how genes are regulated in health and disease.
Hughes Group: Genome Biology
Research in the Jacobsen group is focused at unravelling normal and malignant hematopoietic stem and progenitor cell biology at the single cell level.
Jacobsen Group: Haematopoietic Stem Cell Biology
We apply an integrated approach to human metabolic disease which involves genetic, genomic, cell biology and whole body metabolic studies to understand the pathogenesis of the complications of obesity such as fatty liver disease, type 2 diabetes and cardiovascular disease.
Karpe, Hodson and Christodoulides Group: Metabolic Research Group
We would like to understand the functional and molecular mechanisms of the immune system in various immunologically important conditions such as cancer, infection, autoimmune disease as well as ageing. We have a special interest in computational cancer immunotherapy such as antigen presentation, neo-antigen identification and T cell recognition of neo-antigens as well as interrogating the immune response to personalized vaccines from neo-antigens.
Koohy Group: Machine Learning and Integrative Approaches in Immunology
The Haematopoietic Stem Cell Biology (HSCB) Laboratory is focused on understanding how the normal haematopoietic stem/progenitor hierarchy is disrupted during the development of myeloid malignancies. Our overarching aim is to improve the management of myeloproliferative neoplasms and related conditions through better monitoring and therapeutic targeting of malignant stem cell populations.
Mead Group: Haematopoietic Stem Cell Biology
Aberrant epigenetic changes are a driving force in many human cancers. The focus of our lab is centred on understanding how epigenetics impacts gene regulation so that this information can potentially be used to develop new therapeutic strategies.
Milne Group: Epigenetic Control of Gene Expression in Leukaemia and Haematopoiesis
Hematopoietic stem cell (HSC) transplantation is the only stem cell therapy in routine clinical use, and it is also the cell type that gives rise to most blood cancers. We use single cell biology and genetics to understand how hematopoietic stem cells normally sustain blood formation, and how this process is altered during ageing and when leukemia develops.
Nerlov Group: Hematopoietic Stem Cell Genetics
We focus on four key areas: (1) Dissecting how blood cancers create 'self-reinforcing' niches that promote clonal expansion and protect malignant clones from immunotherapies; (2) Development and application of human bone marrow organoids to study normal and malignant haematopoiesis and validate targets in a relevant tissue microenvironment; (3) Developing novel strategies to selectively target cancer stem cells and pathological megakaryocytes in myelofibrosis, a severe bone marrow malignancy; (4) Understanding our recent discovery that platelets contain a repertoire of DNA fragments sequestered from cell free DNA, and confirming clinical utility for cancer detection and for pre-natal diagnosis.
Psaila Group: The tumour microenvironment in blood cancers
Defining important functional paradigms that lead to inherited cardiomyopathies, in search of novel treatments.
Redwood Group: Cardiac Contractility
Combining computational biology, computational chemistry, and machine learning techniques with biological big data to unravel the higher genomic code of life.
Sahakyan Group: Integrative Computational Biology and Machine Learning
We focus on systems level “big picture” approaches to understand gene regulation and build gene regulatory networks during development and disease in zebrafish, chick, lamprey and human models.
Sauka-Spengler Group: Gene Regulatory Networks in Development and Disease
We define how the immune system functions in the intestine to promote health. We uncover the immune pathogenesis of intestinal diseases such as inflammatory bowel disease to develop better ways to treat these disorders.
Simmons Group: Intestinal Immunity in Health and Disease
We are a computational biology research group using genomic and functional genomic data to study transcriptional regulation, with projects spanning from neuroscience to musculoskeletal biology.
Sims Group: Computational Genomics
We investigate the genetic, molecular and physiological basis of endocrine disorders that affect calcium homeostasis, and endocrine tumour development. By identifying and understanding the underlying mechanisms, we aim to establish better diagnostic methods and develop novel targeted therapies for these disorders to improve patient care.
Thakker Group: Academic Endocrine Unit
Understanding key mechanisms that govern cardiac muscle function in health and disease
Toepfer Group: Cardiac Physiology and Disease Modeling
We aim to understand the fundamental biological processes underlying normal and malignant haematopoiesis and translate this to improve patient outcomes through new rational therapies.
Vyas Group: Biology and Treatment of Human Myeloid Cancers
Using human genetics and functional genomics to understand inherited heart disease
Watkins Group: Inherited Heart Muscle Disease Group
The ability to sequence whole exomes and genomes of individual people has revolutionised our ability to explore the full spectrum of genetic mutations causing serious human diseases. Working closely with the craniofacial teams based in Oxford and other UK units, we specialise in the application of these methods to children born with a serious malformation of the skull termed craniosynostosis.
Wilkie Group: Clinical Genetics
Haematopoietic stem cells (HSCs) support blood cell production throughout life and are also used clinically in cell and gene therapies. We are studying the biology of this important stem cell population with the aim of developing new HSC-based therapies.
Wilkinson Group: Blood Stem Cell Expansion and Fitness

NIHR Oxford Biomedical Research Centre

We lead the Genomic Medicine Theme for the NIHR Oxford Biomedical Research Centre

Find out more

Inherited Heart Disease Service

We make about 1600 patient contacts a year with those who have, or are at risk of having, an Inherited Cardiac Condition (eg cardiomyopathies and inherited arrhythmias) across all age ranges. 

Find out more