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Atopic eczema and associated conditions — asthma, food allergy and hay fever — affect ~40% of the population in developed nations. They cause significant morbidity and create a multibillion-pound global healthcare burden. The discovery that loss-of-function mutations in the gene encoding filaggrin represent a strong risk factor for eczema, asthma and peanut allergy has defined a key pathological mechanism in atopic disease. This breakthrough in understanding has brought new focus on the skin barrier. It has shown impact in treatment approaches to maintain barrier function, translational research targeting epithelial dysfunction and improved public and professional awareness of the role of skin in atopic disease.
Research at the Centre for Cutaneous Research at Queen Mary has led to gene discovery and molecular diagnosis for a number of single gene skin disorders and associated syndromes including hearing loss, inflammatory bowel disease, cardiomyopathy and oesophageal cancer. It has identified GJB2 mutations (encoding Cx26) as major cause of genetic hearing loss (20-50% of all cases) and ABCA12 mutations with the (often fatal) recessive skin condition Harlequin Ichthyosis. Impacts include: 1) increased medical and scientific awareness/knowledge of the inherited basis of these conditions, 2) changes in clinical practice and molecular diagnosis, 3) improved information for patients, parents and the public.
Research at the UCL School of Pharmacy has positively influenced healthcare in startle disease/hyperekplexia, a rare disease that affects humans and several animal species, including dogs, horses and cattle. The identification and functional characterisation of mutations in genes involved in human startle disease by researchers at the School has improved genetic diagnostics and patient care. Our research on startle disease in cattle and dogs has also led to new non- invasive diagnostic tests that have alleviated animal suffering and reduced negative economic impacts on farmers. Overall, our findings have been translated into tangible benefits for the human and animal populations affected by this disease and have changed the way in which the disease is diagnosed and treated. We have also significantly increased the awareness of this rare disorder by communicating with academics, healthcare and veterinary professionals, and the general public.
Individuals with Xeroderma pigmentosum (XP) are extremely susceptible to sunlight-induced skin cancers and, in some cases, develop neurological problems. Alan Lehmann has developed a cellular diagnostic test for this disorder. This test is now conducted as an integral part of a multi-disciplinary XP specialist clinic in London, which was established as a direct result of Alan Lehmann's research in Sussex and which has led to the improved diagnosis and management of the disorder and an improved quality of life for affected individuals.
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.
Diagnostic tests have been successfully developed for identification of the cause of erythrocytosis, particularly in patients with unexplained forms of this rare disease. A diagnostic service with worldwide reach was developed for the genetic characterisation of patients that carry mutations identified by the Queens's group. It deals with approximately 100 samples per year referred for investigation for this rare disease from the UK, Europe and further afield. Proper diagnosis helps in management of patients with erythrocytosis where the problem is not mutation in one of the familiar causative genes. A pan-European web-based database has been established to collect information on long-term outcomes to inform patient management.
Ground breaking and unique research carried out at the Centre for Skin Sciences at the University of Bradford has led to the realization of commercial opportunities in two very high-value consumer brands. Technologies developed in collaboration with multi-national personal-care and cosmetic companies for the treatment of skin hyper-pigmentation have been launched on the market and have reached thousands of consumers. The first product launched by Alliance-Boots (April 2012) is sold within the UK's premier skincare range (No. 7). Success in Britain led to its launch in the US, Finland and Thailand. A second product within the Diorsnow range has been launched by Parfum Dior — a branch of LVMH Moët Hennessy • Louis Vuitton S.A.
Research investigating genetic and environmental interactions leading to skin barrier breakdown in atopic eczema has delivered health benefits by improving the prevention and treatment of this condition. We found that established emollient formulations (e.g. Aqueous Cream BP) containing the harsh emulsifier sodium lauryl sulphate (SLS) damage the skin barrier in patients with atopic eczema and identified an underlying molecular mechanism. Consequently, the NICE Quality Standard and Guidelines now reflect our advice that Aqueous Cream should not be used as a leave-on emollient, SLS has been removed from all emollient formulations in the UK and we have helped develop the next generation of `SLS-free' skin-care products. Medicines regulators including the Medicines and Healthcare products Regulatory Agency (MHRA) and New Zealand MedSafe have also issued new advice as a result of our research.
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.
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.