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Research at Newcastle University, the only centre licenced in the UK, has shown that the in vitro fertilisation-based technique of pronuclear transfer to prevent the transmission of mitochondrial disease from mother to child is feasible. As a consequence the UK Government asked the regulator responsible, the Human Fertilisation and Embryology Authority (HFEA), to conduct both a scientific safety review of the techniques in which Newcastle research was widely referenced and to undertake a public consultation exercise. The findings from both these consultations and from a separate Nuffield Council on Bioethics report were supportive, to the extent that in June 2013 the UK's Chief Medical Officer announced that the Government would bring forward draft legislation to change the law in the UK to allow embryos created using the Newcastle approach to be used for the treatment of affected couples.
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.
Bacteria of the Clostridium genus are of pathogenic, medical and industrial importance. Development by University of Nottingham School of Life Science researchers of three patented methods for genetic manipulation of clostridial species has led to licensing agreements for commercial exploitation of the methodology to enhance strains for chemical commodity and biofuel production and for targeted cancer therapy. These methods are providing significant world-wide impact by facilitating commercial R&D investment and technology developments in fields ranging from healthcare, through chemicals manufacture, to the environment.
King's College London (KCL) has developed a generic test format which is being used to cheaply and easily detect a large number of single-gene disorders and chromosomal abnormalities in in vitro fertilised embryos — a highly significant impact. The test resulted from KCL's research to develop new strategies for preimplantation genetic diagnosis (PGD), which involved developing a small number of DNA probes targeted around a known area of genetic risk to identify mutations as well as methods to detect chromosomal translocations. Because the approach is cheap and easy to apply, it is being used by IVF clinics worldwide as well as by the NHS. The KCL/Guy's and St Thomas' Centre for PGD was licensed in 2008 by the UK Human Fertilisation and Embryo Authority to analyse over 50 genetic conditions affecting single genes and carries out more than half of all the UK's PGD testing. Embryos can now be tested using these techniques for virtually any inherited genetic disease prior to implantation with a 98% success rate, thus reducing the need for later prenatal diagnosis and termination of an affected foetus.
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.
Impact: Economic: Genomic selection has revolutionised, and is now standard practice, in the major dairy cattle, pig and chicken breeding programmes, worldwide and provides multiple quantifiable benefits to breeders, producers, consumers and animals.
Significance: Increased food production world-wide
Beneficiaries: Breeding companies, primary producers, consumers, livestock.
Attribution: Work led by Haley and Woolliams (Roslin Institute now part of UoE).
Reach: Methodologies applied worldwide in livestock improvement, and more recently applied in human genetics and plant breeding.
Research by Professor David Brook on inherited disorders has made a major contribution to the human genetics field. The work involved gene identification and mutation detection for genotype/phenotype correlation analysis in patients, which has led to the development of diagnostic tests for inherited conditions including myotonic dystrophy type 1 (DM1), Holt-Oram Syndrome (HOS), and campomelic dysplasia (CD). The tests have benefitted patients in the UK and throughout the rest of the world and in many cases they have been used as the definitive diagnostic measure. The assays developed have also been used in affected families for prenatal diagnosis to enable informed reproductive decisions.
Atlas Genetics Ltd is a University of Bath spin-out company established in 2005 by Dr John Clarkson, a former lecturer in the Department of Biology and Biochemistry (DBB). In collaboration with DBB researchers, Atlas Genetics developed novel technology for rapid (<30 minute) and robust detection of infectious diseases at the point-of-care. Atlas Genetics has raised over £22m funding specifically to develop the Atlas ioTM detection system, which combines a patented electrochemical detection system with probes for specific micro-organisms within a small disposable cartridge. Different probe cartridges are used to detect a range of pathogens that have critical clinical importance and large-scale socio-economic significance, including Candida, methicillin resistant Staphylococcus aureus (MRSA), bacterial meningitis, and sexually transmitted diseases (STDs) Trichomonas, Chlamydia and Gonorrhoea. Candida research in DBB underpinned the specificity, sensitivity and application of the technology to clinical samples and was used in seeking capitalization for Atlas.
Atlas Genetics re-located from the University to a nearby business park and employs 35 full-time staff, some having moved from academia into the company largely thanks to the synergistic relationship with University of Bath researchers. The ioTM platform has undergone successful clinical tests on Chlamydia and Trichomonas at Johns Hopkins University, USA. The ioTM platform and Chlamydia test is scheduled for clinical trials in 2014, with roll out in Europe and the USA, pending regulatory approval, providing global reach within the $42bn in vitro diagnostics market.
Research carried out by the University of Southampton into the genetic causes of diseases, and the gene mapping techniques and applications derived from this research, has benefited patients worldwide through improved prediction, diagnosis and treatment for common diseases with a complex genetic basis. A particularly striking example is age-related macular degeneration which is a common cause of blindness. Commercially, the research provides cost-effective strategies for genotyping DNA samples, and marker-based selection strategies for economically relevant animal species, such as cattle. The work underpins the development of the personal genomics industry, which specialises in individual genetic risk profiling.
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.