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Keratins are major cytoskeletal proteins of epithelial cells. Pioneering research at the University of Dundee led by Prof Irwin McLean FRSE and Prof Birgit Lane FRSE showed the association of keratin mutations with genetic skin fragility disorders. This has dramatically changed the diagnosis of inherited skin disorders and has directly translated into improved clinical management of patients both in the UK and internationally. Further work on this disease has resulted in the first clinical trial using siRNA for a skin condition.
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.
Atopic eczema is a disabling long-term skin condition affecting ~2% of the UK adult population. The mainstay of treatment remains topical steroids and moisturisers, but many adult patients with atopic eczema have resistant disease that can significantly impair quality of life. Newcastle University researchers conducted clinical trials that showed both whole-body ultraviolet B phototherapy and systemic (tablet) treatment with the immunosuppressant drug azathioprine were effective treatments for adults with atopic eczema resistant to standard topical treatments. UK and European guidelines written after 2008 recommend UVB phototherapy and azathioprine for atopic eczema, and survey data indicate that both are now widely used to treat the disease in the UK.
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 in the Centre of Evidence Based Dermatology at the University of Nottingham has improved the lives of children with eczema throughout the world. This has been achieved by improving the evidence base for clinical care through identifying treatments that work and those that do not, thus reducing the burden of disease for patients and reducing costs for patients and the NHS. Clinical care has been improved, economic benefits have been realised and Government policy informed.
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.
Improved approaches to the management of asthma treatment in children, new NHS and BUPA healthcare guidance and changes in UK media attitudes have arisen from fundamental and clinical research at Brighton into the effects of genotype variation on responses to asthma medicines in children. Direct clinical benefits in quality of life resulted from the first-ever randomised clinical trial on genotype specific treatments for asthma. The subsequent worldwide media debate led to wider professional and public understanding of genetically-directed treatment choices and personalised medicines, with particular impact on parents of children with asthma.
Our research has shown that water softeners are not effective in reducing the symptoms of moderate to severe eczema in children, and that their use provides no additional benefit over usual care. This finding has had an impact on Healthcare practitioners ensuring they are now able to offer the evidence-based advice to patients that the use of water softeners will not alleviate the symptoms of eczema. This advice not only eliminates false hope in patient groups but also results in significant cost savings for families of children with moderate to severe eczema who might otherwise have purchased water softeners.
Research into the genetic causes of Parkinson's disease by Professor Nick Wood's group at the UCL Department of Molecular Neuroscience, describing the mutations in the gene LRRK2, have led to the development of a new genetic test which is now available to patients and their families. This benefits them by providing a precise diagnosis, and an understanding of the risk of disease to relatives. The research has provided new insight into patterns of Parkinson's disease in particular ethnic groups, and given rise to improved public understanding and high profile philanthropy. This discovery has also opened up a new area of research into disease-modifying treatments in Parkinson's disease within the pharmaceutical industry, leading to new drug candidates.
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.