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Work by the University of Huddersfield's Archaeogenetics Research Group has been at the forefront of developing mitochondrial DNA as a tool for reconstructing the dispersal history of mankind, from a new model of the expansion of modern humans out of Africa to re-evaluations of the settlement history of Europe, Asia and the Pacific. Pivotal in the emergence of commercial genetic ancestry testing, this work generates immense public interest and creates many opportunities for broad engagement. It has provided an expert basis for TV and radio programmes, featured widely in the mainstream press and helped the Human Genetics Commission formulate guidelines for the genetic ancestry testing industry.
African Wild Dogs (Lycaon pictus; referred to as `AWDs' hereafter for brevity) have been classed as endangered by the International Union for Conservation of Nature (IUCN) for 22 years. Large, well-managed captive breeding programmes provide a safety net to restore wild populations. However, the management of the AWD population has been difficult owing to an incomplete family record of captive AWDs, which risks introducing genetic disorders caused by inbreeding. A genetically informed management plan developed by University of Glasgow researchers has provided a genetic measure of diversity and establishes a genetically informed pedigree, which is used in the European Endangered Species Programme for African Wild Dogs. This has introduced a more informed means to manage the captive AWD population, to maintain the genetic diversity of the species across the European zoo network (roughly half the world's captive AWD population), with 53 zoos in 16 European countries (and Israel) currently participating.
High-throughput genotyping has revolutionised the genome-wide search for associations between genetic variants and disease. Professor Sir Edwin Southern of the University of Oxford's Biochemistry Department invented the highly cost-effective array-based method of analysing genetic variation based on hybridisation between probes and samples on glass slides or `chips'. The spin-out company Oxford Gene Technology (OGT) founded by Southern in 1995 licenses the patent to manufacturers of `single nucleotide polymorphism (SNP) chips', including Illumina and Agilent, a global business exceeding $500M per year. Southern has continued to refine and extend this technology to increase its speed, efficiency and cost-effectiveness. This revolutionary technology has widespread applications such as prediction of individual risk, development of new drugs, provision of personalised treatments, and increased cost-effectiveness of clinical trials. Licence revenues fund R&D within OGT, and endow charitable trusts supporting primary school science education in the UK and crop improvement in the developing world.
This case study describes the societal and cultural impact of the development of DNA-based tools for distinguishing between different lineages of the human Y chromosome, which is male-determining and passed down from father to son. The availability of highly discriminating DNA markers has had two main impacts: (i) illumination of the link between the Y chromosome and patrilineal surnames, triggering the development of genetic genealogy, the investigation by the public of historical family relationships through DNA testing; and (ii) application of Y-DNA markers in forensic casework, with particular utility in rape cases where male and female DNAs are mixed.
The International HapMap project was a major international research collaboration to map the structure of common human genetic variation across populations from Europe, Asia and Africa. Mathematical Scientists from the University of Oxford played key roles in the development of statistical methods for the project, along with its overall design and management of the International HapMap Project.
Companies have used HapMap as the primary resource to design genome-wide microarrays to make novel discoveries in, for example, pharmacogenetic studies. The size of this market is estimated at $1.25 billion.
One novel discovery has led to a genetic test that is predictive of sustained viral suppression in patients treated for chronic hepatitis C. An estimated 2.7 to 3.9 million people are affected by HCV infection. This test is sold commercially by the company LabCorp and is a significant contributor to the company's testing volume. Finally, the project has been important in widening the public understanding of genetic variation.
Through their study of DNA polymerases from organisms of the domain archaea, researchers at Newcastle University and University College London identified the mechanism by which these organisms avoid potentially damaging mutations in their DNA. As a consequence of this work they invented a novel genetically-engineered DNA polymerase. This enzyme has been patented and is the world's only high-fidelity, proofreading DNA polymerase that efficiently reads through uracil in the polymerase chain reaction (PCR). PCR is a very widely used technique in biomedical research. An international bioscience company [Text removed for publication, EV d] signed a licensing agreement with Newcastle University in 2008 to market the enzyme, and total sales since 2008 exceed [Text removed for publication, EV d]. Further commercial exploitation has begun through licensing agreements with other major companies.
The domestication of animals — some ten thousand years — ago has allowed important insights into the origins and spread of farming across the globe and the impact that had on human biology and culture. Research carried out by an international research group, led by Aberdeen and Durham Universities, has brought understanding of this fundamental change in human history to a broader public, resulting in impacts on culture and quality of life. The research findings have featured widely in TV and radio programmes, both in Britain and abroad. The main researcher was also invited to participate in a six-month (privately-funded) experimental sailing expedition that traced the migration route of ancient Austronesian settlers into the pacific, which led to the collection of unique samples for research. The voyage resulted in a film and a book.
The Caldecott/Jeggo/O'Driscoll laboratories have identified human genetic diseases that are caused by defects in genes involved in DNA strand-break repair. Many of these diseases are associated with neurological pathologies such as cerebellar ataxia (resulting in poor balance, movement control, and patients often being wheelchair bound), microcephaly (smaller-than-normal head circumference), and developmental delay. The Caldecott/Jeggo/O'Driscoll laboratories have engaged in identifying/diagnosing patients with such diseases as a service to clinicians/clinical geneticists in the UK National Health Service (NHS) and worldwide. Since 2008, these laboratories have identified the underlying genetic defect in more than 150 patients with a range of hereditary DNA damage-related disorders. In particular, these laboratories have diagnosed patients with genetic defects in the DNA damage response genes Lig4, NHEJ1-XLF, DCLRE1C-Artemis, PRKDC-DNA-PKcs, PCNT, ORC1, ATRIP, ATR, and TDP2. These diagnoses benefit both the clinical geneticist and the patient; identifying not only the cause of the patient's disease but also enabling better disease management. For example, if not first diagnosed, standard chemotherapeutic regimes can be fatal in cancer patients who harbour homozygous TDP2 mutations, and standard conditioning regimes used during bone-marrow transplantation can be fatal in LIG4 Syndrome patients. These diagnoses can therefore translate into increased patient survival.
Hagan Bayley's research on nanopore sensing for DNA sequencing at the University of Oxford led to the formation of the spin-out company Oxford Nanopore Technologies Ltd (ONT) in 2005. Since 2008, ONT has raised £ 97.8M to support research and product development. This level of investment arises as a direct result of the pioneering technology ONT has developed, based on research in the UOA, which has the potential to revolutionise DNA sequencing and other single molecule analyses. ONT currently employs 145 people, nearly six times as many as in 2008, and was recently valued at $ 2 billion. Evidence from ONT was used in a 2009 House of Lords report on genomic medicine, demonstrating ONT's position at the forefront of this new technology.
The Ethics of Patenting DNA was a Nuffield Council on Bioethics Report by a working party of which Thomas Baldwin was a member with responsibility for providing the ethical framework for the report. The report was published in 2002 and its initial impact occurred in the 2002-2005 period; but it has had continuing impact during the current period on legal and political debates concerning the granting of patents on DNA sequences to pharmaceutical and biotechnology companies and to universities. More generally it continues to have a significant impact on policy formation in this much disputed area.