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The University of Southampton

Genomics, Epigenetics and Bioinformatics Research Theme

Southampton has a strong track record in human genetics and medical genomics and there is a broad research program from genetic medicine and the study of single gene disorders, through identification of genetic factors in common complex disease, the identification of somatically-acquired mutations in cancer to clinical application of genomic technology for molecular diagnosis and treatment optimisation in cancer. One of the strengths of genetics research in Southampton has been the close links between clinicians, clinical scientists and basic scientists.

Genomics Research
Genomics Research

Epigenetics refers to processes that induce heritable changes in gene expression without altering the gene sequence. The major epigenetic processes are DNA methylation, histone modification and miRNAs. There is now substantial evidence that alterations in these processes lead to human disease.

Our research at Southampton in epigenetics extends from the basic biology of how these epigenetic processes are established and regulate gene expression through to their role in human disease. In particular, research is focussed on understanding how aberrant DNA methylation can lead to single locus epigenetic congenital imprinting disorders such as Beckwith-Wiedemann syndrome and Silver-Russell syndrome, and the role of epigenetic processes in the developmental origins of adult diseases (heart disease, obesity, type II diabetes, asthma, osteoarthritis and cancer). Understanding how alterations in these epigenetic processes may lead or predispose to disease is crucial not only for the early identification of individuals at increased risk but also for the development of new strategies for intervention and treatment.

Our bioinformatics research utilises whole genome gene expression technologies (e.g., microarray, global methylome arrays and RNA-Seq) to investigate the mechanism of human disease, and to construct diagnostic and prognostic classifiers.

Key achievements

The Genetic Epidemiology Group, established in 1988, developed the first single nucleotide polymorphism (SNP)-based linkage disequilibrium maps for multiple populations that have been used for disease association mapping, the study of human populations and in characterising patterns of extended homozygosity in the genome.

Over the last 5 years, our research has identified clinical subgroups and recruited over 2000 subjects to national and international collaborative studies facilitating the discovery of breast, colorectal and other cancer predisposition genes, and the characterisation of associated tumour phenotypes. We have been the first to identify specific, targetable genetic risk factors in myeloid disorders, and the identification of genetic prognosticators in multiple myeloma.

We were the first to establish an epigenetic cause for diabetes and have identified new imprinting syndromes, Temple syndrome and multilocus imprinting disorders.

Link to Cancer Sciences
Link to Cancer Sciences Research Group
Links to all Research Groups
Links to all Research Groups pages
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