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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
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

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.