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Research from the University of Oxford's Clinical Genetics Laboratory initiated the introduction of an upper age limit of 40 years for sperm donors in the UK and internationally and led to increased public awareness of the effect of paternal age in the transmission of inherited disease. Oxford researchers, led by Professor Andrew Wilkie, were the first to describe the exclusively paternal transmission of de novo mutations, in a rare craniofacial disorder called Apert Syndrome; they also showed that the accumulation of such mutations leads to a disproportionate risk of disease transmission with age. By showing that the frequency of mutations increases with paternal age, this research contributed to important changes in clinical practice relating to sperm donation. This has also had a significant cultural impact, as the research and its clinical outcomes have challenged public perceptions of paternal age.
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.
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.
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.
Our research has established that Trimethylaminuria (TMAU) — a rare and distressing disorder where affected individuals excrete large amounts of odorous trimethylamine (TMA) in their breath, sweat and urine — is a genetic disorder, and is not, as previously thought, due to poor hygiene. This has transformed understanding in the medical community and the wider public of why some people have an extremely unpleasant `fishy' body odour, and has been crucial to helping individuals with TMAU who often suffer social isolation, rejection, depression and higher than normal suicide rates. The findings have led to genetic diagnosis and genetic counselling for TMAU in the UK, Europe, USA and Canada and the publication of guidelines for the diagnosis and treatment of the disorder.
Research by Professor Elizabeth Shephard at the UCL Research Department of Structural and Molecular Biology has led to identification of the genetic origin of Trimethylaminuria (TMAU), commonly known as fish-odour syndrome. This has led to genetic diagnosis and genetic counselling for TMAU in the UK, Europe, USA and Canada, and the publication of guidelines for treatment and diagnosis. Shephard has engaged closely with patient groups over the years to publicise her findings. There is now an increased understanding among medical practitioners and the public that the body odour produced is due to a metabolic defect of genetic origin, and is not due to poor hygiene.
The Basidio Molecular Toolkit developed at the University of Bristol has enabled the pharmaceutical industry to achieve the efficient genetic manipulation of a group of basidiomycete fungi (mushrooms and toadstools) and thereby produce medically important antibiotics and proteins cost-effectively. For example, GlaxoSmithKline's collaboration with the Bristol team saved 70,000 hours of research and development in getting a natural antibiotic called pleuromutilin to market. In China, the system is used to produce medicinal anti-cancer proteins from fungi in commercially viable quantities. In addition, government agricultural research programmes in the US and Ireland have adopted the toolkit to increase the efficiency of their search for disease-resistant crops in the interests of farmers, consumers and economies.
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.
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.
Age-related macular degeneration (AMD) is the most common cause of blindness in Western populations and reduces the quality of life of tens of millions of older people worldwide. In 2007 a research group at Cambridge University led by Professor John Yates in the Cambridge Institute for Medical Research discovered that a common genetic variant in the complement C3 gene was associated with an increased risk for AMD. This finding is now being used in a genetic test in North America and Europe to estimate individual risks for AMD. Those found to be at high risk are offered regular eye examinations to detect early development of the wet form of the disease before symptoms arise. This can be treated with anti-VEGF therapy. Early treatment gives the best chance of preserving sight by preventing irreversible damage to the retina.