The Centre's scientific objectives are:
- to gain insight into genetic susceptibility to common and complex human diseases
- to localise and identify disease-causing genetic variants
- to characterise the function of genetic variants and to understand how they contribute to disease
- to elucidate the structure of key molecules
- to develop new methods to address these questions; and
- to play a role in the translation of these research findings into the clinic.
To these ends, it conducts research in the following areas:
The Centre's research encompasses both infectious and non-communicable diseases, affecting both the developing world as well as industrialised countries.
- Immunity, inflammation and infectious disease: understanding the role of inherited individual variation in immune and inflammatory responses to disease.
- Cancer genetics: Identifying genes that predispose to cancer, or contribute to cancer growth through somatic changes.
- Type 2 diabetes: Using genetic and genomic approaches to uncover the mechanisms responsible for metabolic disease, including Type 2 diabetes and obesity.
- Endometriosis: Identifying genes that predispose to this condition.
- Cardiovascular disease: Exploring genetic susceptibility to common forms of heart disease; using this knowledge to place genetics at the heart of advances in patient care.
- Neuroscience: Research in partnership with the Department of Psychiatry
The Structural Biology Division (STRUBI) aims to integrate analyses ranging from the atomic-level precision of X-ray crystallography through cryo-electron microscopy and tomography, the the cellular-level details revealed by fluorescent light microscopy and X-ray microscopy. The research interests of all group leaders are increasingly focused on defining the mechanisms of action of large macromolecular assemblies with the cellular context.
Statistical and population genetics
Much of modern biomedical research involves collecting and analysing large-scale data sets on biological variation. The Statistical and Population Genetics programme aims to use statistical analysis and mathematical modelling to describe and understand patterns of biological variation. Group members have played key roles in major international initiatives including the Wellcome Trust Case Control Consortia (WTCCC, WTCCC2), the 1000 Genomes Project and the International HapMap Project.
Much of the translational work in the Centre is coordinated by the Genomic Medicine Theme of the Oxford Biomedical Research Centre (a partnership between the University of Oxford and Oxford University Hospitals). Its aim is to translate research findings in genetics into clinical practice for a range of clinically-important conditions, and to develop advanced technologies for use in the NHS and healthcare services globally.
The High Throughput Genomics Core at the Centre collaborates with researchers in many fields to develop applications of high throughput sequencing as a route to understanding human disease.
The focus of the transgenics group is to increase the efficiency and reliability of the genetic manipulation and to develop novel transgenic methodologies focused on providing in vivo analysis tools for the study of genetic variation and mutation.