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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.
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.
Until recently, prenatal diagnosis of genetic conditions required analysis of fetal genetic material obtained following invasive testing, with a risk of miscarriage. Non-invasive prenatal diagnosis (NIPD) using cell-free fetal DNA in maternal plasma has transformed prenatal diagnosis for many women. Testing the maternal blood sample avoids the miscarriage risk. At UCL, we have led the implementation into clinical practice of NIPD for serious sex-linked and autosomal dominant disorders. After a successful application for UK Gene Testing Network (UKGTN) Gene Dossier approval for fetal sex determination in 2011, this is now the standard of care across the UK.
Taxonomy is of key relevance to the environment, agriculture, food production, and human health. However, describing all living organisms is such a daunting task that it calls for new approaches. A DNA-based system for species identification, called 'DNA Barcoding', is one such solution. Imperial researchers identified DNA barcodes for plants in 2008, which have since had impacts on the environment, health and welfare and in commerce. The plant DNA barcodes have been endorsed by the Consortium for the Barcoding of Life and have led to multiple applications ranging from facilitating biodiversity inventories, helping authentication of material (herbal medicine) for trade control in Malaysia, South Africa, India and Nigeria, and combating invasive species and smuggling in Africa.
University of Oxford researchers have developed the first safe, accurate and non-invasive prenatal diagnostic tests. After confirming that fragments of fetal DNA circulate in maternal blood, University of Oxford scientists used the polymerase chain reaction technique to accurately identify fetal DNA in maternal serum and plasma. This technique, known as cell-free fetal DNA testing, has enabled the first non-invasive prenatal genetic tests for the determination of fetal gender and the diagnosis of genetic disorders. Patented in 2001 and commercially released in 2011, cell-free fetal DNA testing is now recommended by the UK National Health Service as a safe and accurate alternative to invasive prenatal tests.
This case study describes both economic and healthcare benefits that have resulted from a new DNA (gene) sequencing technique known as SOLiD sequencing. Through the 1990s until the present, Cosstick (University of Liverpool since 1984) has both developed the synthesis and studied the properties of chemically modified DNA in which a single oxygen atom is replaced by sulfur; we have termed this a 3'-phosphorothiolate (3'-sp) modification. Chemically prepared DNA containing the 3'-sp modification is a key enabling component of the Applied Biosystems SOLiD DNA sequencing instrument which is able to produce extremely rapid, cost-effective and exceptionally accurate DNA sequence information. The impact of this very powerful sequencing technology extends beyond economic benefits as it has many healthcare applications which have impacted medical practice.
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.
Professor Luke Alphey at the University of Oxford has developed a new and highly effective technique for the control and eradication of insect pests and carriers of disease. This groundbreaking approach involves the introduction of a dominant lethal gene into an insect's DNA at the egg stage. Since 2012, the method has been successfully applied in Brazil to control Aedes aegypti, the worldwide vector of the dengue fever virus. The regulatory framework for genetically modified insects has also changed substantially as a result of Alphey's work. The spin-out company Oxitec has attracted investment in the region of £13.4 million since 2008, reflecting the huge potential of this approach.