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.
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.