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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.
The UCL Centre for Amyloidosis and Acute Phase Proteins has identified the cause and treatment for the prototypical cryopryin associated periodic syndrome (CAPS), and subsequently for a range of other hereditary and acquired autoinflammatory disorders. As a result of the research, canakinumab was licensed for this condition. In recognition, NHS Specialised Services commissioned the UK CAPS Treatment Service in 2010 to deliver life-changing IL-1 blocking therapy to the national caseload of CAPS patients at UCL.
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.
Research at the UCL Institute of Ophthalmology over the last 20 years has resulted in the identification of a large number of novel genes that cause inherited retinal disease. These genes have been incorporated into diagnostic tests, which have allowed molecular diagnosis, improved genetic counselling including pre-natal/pre-implantation diagnosis, better information about prognosis and have informed decisions about which diseases should be prioritised for clinical trials of novel treatments. The identification of these genes has greatly improved understanding of disease mechanisms, an essential prerequisite for developing new treatment approaches such as gene therapy.
Our research has had impact on the activities of practitioners and their services, health and welfare of patients, on society and on public policy. New diagnostic tests for genetic deafness have been introduced, and healthcare guidelines and professional standards adopted through our investigation of the aetiology of childhood-onset hearing loss. Disease prevention has been achieved by our research on antibiotic-associated deafness, public awareness of risk to health and hearing has been raised, and we have increased public engagement through debate on scientific and social issues. We have also influenced public policy on ethics of genetic testing for deafness with our research resulting in improved quality, accessibility and acceptability of genetic services among many hard-to-reach groups (deafblind, culturally Deaf, and the Bangladeshi population of East London).
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.
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.
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.
Bristol University's School of Veterinary Sciences, a global leader in feline medicine, was the first UK centre to develop and commercially offer polymerase chain reaction (PCR) and quantitative (q) PCR assays to detect a range of feline infectious and genetic diseases. Since 2008 there has been a dramatic increase in the number of qPCR tests performed, with over 35,000 tests carried out between 2008 and 2013. The results of genetic testing have informed breeding programmes and resulted in a reduced prevalence of genetic disorders such as polycystic kidney disease (PKD). The results of testing for infectious diseases have informed diagnosis and treatment modalities and, together with the genetic testing, have contributed to significant improvements in feline health and welfare. This work has also generated commercial income in excess of £1.7M, which has been used to further research into feline infectious and genetic diseases.
Research led by Dr Stuart Raleigh at the University of Northampton's School of Health, in collaboration with Professor Malcolm Collins of the University of Cape Town, has identified genetic variants that predispose professional athletes and keen amateur sports persons to soft tissue musculoskeletal injuries. The genetic variants are particularly associated with damage to the Achilles tendon and rupture of the anterior cruciate ligament, one of the four main ligaments in the knee.
The findings have led to tests that can identify individuals with these genetic variants. The tests have been commercialised through four international patents. They are used, together with information on lifestyle and level of activity, to assess a person's risk of injury. Armed with this knowledge, individuals can change their lifestyle to prevent possible injury. Reducing injuries would reduce the cost of care.