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During the last 10 years Cardiff University researchers have developed and applied a range of genetic and molecular analysis techniques to inform conservation and biodiversity policy and practice in regions around the world where specific species and biodiversity are under threat. Genetic research on orang-utans and elephants in the Kinabatangan Wildlife Sanctuary in Borneo has guided strategic action plans for these species. Cardiff's molecular censusing and genetic analysis of giant panda populations in China have directly informed the strategic relocation of individual animals into isolated populations in the wild to preserve the genetic diversity of the species.
Research in the School of Mathematics & Statistics in the University of Glasgow has been influential in answering a long-standing question: where do we come from? The fleshing-out of the 'out of Africa' theory has been the focus of two documentary series, The Incredible Human Journey and Meet the Izzards, and has generated income for DNA testing companies in the UK and US by enabling them to offer `deep DNA' tests revealing one's roots from far back in history. The Incredible Human Journey aired on BBC 2 in 2009, reaching 10.2 million viewers altogether, has been watched 100,000 times on YouTube and was broadcast in shorter format in Australia and Canada before being released as a DVD. Meet the Izzards was broadcast on BBC 1 in 2013 to over 3 million people.
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.
Impact on productivity, the economy and the environment: UK dairy farmers can select the best animals for breeding using analysis of a wide range of traits, leading to improved productivity, greater efficiency and reduced environmental impact, because of UoE research creating a UK Test Day Model (TDM) and an overall Profitable Lifetime Index (PLI)
Beneficiaries: The principal beneficiary is the dairy industry, specifically dairy farmers who are able to generate higher profits. This has benefits for UK consumers and the economy by keeping milk prices lower. The reduction in greenhouse gas emissions associated with more efficient dairy farming practices has global benefits.
Significance and Reach: The genetic evaluation system enabled by the PLI and TDM has resulted in a financial benefit to the UK dairy industry of an estimated £440M over the period 2008-2013.
Attribution: The quantitative genetic research was led by Dr Sue Brotherstone and Professor Bill Hill of the School of Biological Sciences, UoE, with colleagues at Roslin Institute (UoE; UoA6) and SRUC (also returned with UoE in UoA6) as described below.
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.
Foal Immunodeficiency Syndrome (FIS) is an emerging fatal inherited equine disease which has caused much concern in the equine industry. Research at the University of Liverpool (UoL) into the genetic basis of this disease has identified the genetic mutation and developed a carrier test which led to equine population screening to understand the spread of this disease (>40% adult carriers in one breed, Fell ponies) and provided a tool for vets and owners to design selective breeding programmes to eradicate the disease. Since the introduction of the test in 2010, the number of cases has drastically fallen (only 1 detected in any breed in 2012) and FIS spread into other breeds is now considered most unlikely.
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.
Genetic tests introduced by insurance companies for dental healthcare in the USA are underpinned by leading research on the interleukin-1 cytokine system carried out at the University of Sheffield. Research in Sheffield has led directly to the development of these tests and has had [text removed for publication]. Implementation of the PSTf0d2 test by Delta Dental (largest dental insurer in the USA) stratifies patients at risk of periodontitis, has informed USA government policy on the use of genetic data in healthcare and has led directly to new dental policies for adults based on personalised IL-1 genetic data. The health value of this is $4.8 billion/year in the USA.
As a result of research from Oxford's Professor Andrew Wilkie, accurate genetic diagnostic tests are now available for over 23% of all craniosynostosis cases nationally and internationally, leading to improved family planning and clinical management of this common condition worldwide. The premature fusion of cranial sutures, known as craniosynostosis, is a common developmental abnormality that occurs in 1 in 2,500 births. Over the past 20 years, the University of Oxford's Clinical Genetics Lab, led by Professor Wilkie in collaboration with the Oxford Craniofacial Unit, has identified more than half of the known genetic mutations that cause craniosynostosis and other malformations of the skull.
The effects of accidental salmon farm escapes, intentional releases of non-native salmon and trout, and stocking of fertile farm-reared trout, on the genetic makeup, fitness and long-term viability of wild populations has been a matter of increasing concern over the past two decades. Ferguson and Prodöhl's group demonstrated that offspring of farmed, first and second generation hybrid and backcrossed salmon and trout showed reduced survival compared with wild native fish, and that repeated escape/introduction events can cause a reduction in the biological fitness of vulnerable wild populations leading to reductions in numbers and potentially to their extinction. These findings led directly to changes in regulations and guidelines by relevant major stakeholders including the Environment Agency (England & Wales), Wild Trout Trust, North Atlantic Salmon Conservation Organisation, World Wildlife Fund, and governments in Europe and North America.