Research Overview - Scientific

The Wellcome Trust Centre for Human Genetics is host to the Genetics Theme of the Oxford Biomedical Research Centre (BRC).  The Oxford BRC is one of five Comprehensive centres in the UK, funded by the Department of Health's National Institute of Health Research to translate advances in biomedical research into NHS practice.

The Oxford BRC is a partnership between the University of Oxford and the Oxford Radcliffe Hospitals NHS Trust, directed by Prof Keith Channon.  Its programme encompasses ten disease-specific themes and three cross-cutting themes, of which Genetics is one.  Further information about the Oxford BRC can be found from the website (www.oxfordbrc.org). The Genetics Theme Leader is Prof Andrew Wilkie and Programme Director is Dr Jenny Taylor.

The aims of the Genetics Theme are to:

  1. provide genetics infrastructure (platforms and expertise) to support translational research projects
  2. conduct a translational research programme that results in new NHS-based genetics and pathology services
  3. integrate the disciplines of genetics and pathology in order to promote new avenues of translational research centred on molecular characterisation of tissues  

The Genetics Theme has invested in core technologies around which its projects are based. These include next generation sequencing, array-based comparative genomic hybridisation (array CGH) and single nucleotide polymorphism (SNP) typing.  The location of the BRC Genetics Theme in the WTCHG provides additional scientific expertise in genomics, bioinformatics and statistical genetics and access to other technology platforms.  

The Genetics Theme projects aim to translate research arising from other BRC Themes or University groups, in particular those based in the WTCHG, into the NHS. Sequencing projects focus on new genetic tests for sudden cardiac death syndromes (PI Prof Hugh Watkins), retinal degeneration (PI Dr Susan Downes), ataxia (PI Dr Andrea Nemeth), brain malformations (PI Prof Jonathan Flint and Dr David Keays), pathogen surveillance (PI Dr Derrick Crook) and cancer (PI Prof Ian Tomlinson).  A second major technology focus is use of array CGH and related methods to assess copy number variation.  Projects are currently underway in congenital heart disease (PI Prof Shoumo Bhattacharya), chronic lymphocytic leukaemia (Dr Anna Schuh), brain malformations (Dr David Keays), speech and language disorders (Dr Sam Knight), craniosynostosis (Prof Andrew Wilkie) and pre-implantation genetic diagnosis (PI Dr Dagan Wells).  Dr Sam Knight oversees the array CGH programme for the Theme.

Cancer genetics, led by Prof Ian Tomlinson, is a strong focus of this Theme and utilises a range of technologies to explore the molecular basis of tumours and evaluate novel diagnostic algorithms for clinical practice.  The programme encompasses familial and sporadic disease, and focuses on endometrial, colorectal and skin cancers.

The Genetics Theme has an interest in developing the genetics of common complex diseases for clinical practice. For many diseases, the known susceptibility genes have insufficient predictive power to be used clinically at the moment.  However, this is likely to be an area of rapid development.  Inflammatory bowel disease is currently one area of complex disease genetics being investigated as we are part of an EU-funded Consortium to evaluate a SNP chip for IBD.

A successful translational research programme will result in novel genetics tests and technologies for the NHS.  Such tests and technologies are provided by Clinical Genetics services in the NHS and we work closely with the Oxford NHS Clinical Genetics Department (Lead consultant Dr Ed Blair) and the Oxford NHS Molecular Genetics Lab (Lead Dr Anneke Seller) and Cytogenetics Lab (Lead Kim Smith), all based at the Churchill Hospital, to achieve this. 

Additional considerations for successful translation are working with patient groups and the public to evaluate patient benefit and allow patient participation in our research; working with ethicists to explore any ethical implications or our programmes and conducting health economics research to evaluate the cost-effectiveness of the novel tests.

Funding Sources

NIHR Oxford Biomedical Research Centre, Oxford

Research Area

Translational Genetics

Keywords

Translational Genetics, Next Generation Sequencing, learning disability, mental retardation, brain malformation, chronic lymphocytic leukaemia, congenital heart disease, speech and language impairment, autism, array comparative genomic hybridization (aCGH),  molecular diagnosis, clinical diagnostics