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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 1 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

NIHR Oxford Biomedical Research Centre

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

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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. 

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Genetics, Genomics and Genome Biology DPhil Projects

Analysis of blood stem cell lineage specification in mammalian development

Analysis of De Novo Mutations in the Human Testis

Assigning Functional Mechanisms to a New Coronary Artery Susceptibility Gene

Brown adipose tissue WNT signalling as a therapeutic target for obesity and type 2 diabetes

Characterisation of molecular pathways of differentiation in normal human lympho-myeloid differentiation using a systems biology approach

Chromatin remodeling and gene expression

Combining genome-editing in human IPS cells with Type 2 diabetes genomics to decipher mechanisms for islet dysfunction

Defining human hepatic insulin resistance

Developing a framework for precision medicine in a complex trait

Engineered induced pluripotent stem cell lines for phenotypic selection of cardiac cell types

Epigenetic programming of hematopoietic stem cells and their progeny

Exome and whole genome sequencing to identify new genetic causes of skull malformations

Exploring the role of Z-disk structure and signalling for striated muscle integrity with the help of genome-edited mouse models of cardiomyopathy

Functional analyses of newly implicated genes for inherited heart muscle diseases

Functional genomic analysis of genetic susceptibility loci for coronary artery disease

Heterogeneity of heritable risk in coronary disease

How do cranial sutures work?

Human Model of DS-AML: Identifying mechanisms of differentiation arrest leading to Acute Myeloid Leukaemia

Identifying new molecular players determining metabolic disease risk and susceptibility to osteoporosis 

Identifying novel genetic causes of pituitary cancers

Identifying novel therapeutic strategies for endocrine cancers

Impact of De Novo Mutations and Mosaicism in Human Disease: Applications to Non-Invasive Diagnostic Techniques

The influence of dietary fatty acids on regional adipose tissue development and function

In vivo modelling of mutation order and oncogene addiction in myeloproliferative neoplasms

Molecular mechanism of familial partial lipodystrophy

Niche determinants required for leukaemic and normal stem cell function

The role of hematopoeitic stem cell heterogeneity in hematopoietic emergency responses

The role of the transcription factor Nuclear Factor I/X (NFIX) in the pathogenesis of Marshall-Smith Syndrome (MSS)

Single cell analysis of malignant stem cell clones in myelofibrosis

Studying blood stem cell development through single cell and lineage tracing analyses

Whole genome sequencing to identify new disease genes for hypertrophic cardiomyopathy

All DPhil projects