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The treatment of patients with neonatal diabetes has been transformed by the research of Professors Sian Ellard and Andrew Hattersley at Exeter. Childhood diabetes usually presages a life-long requirement for insulin injections and a reduction in quality of life. This research revealed that ~50% of patients with permanent neonatal diabetes have mutations in a potassium channel regulating insulin secretion. A new diagnostic test was introduced and relevant patients were switched from insulin injections to oral therapy. As a result, patients in 77 countries across 5 continents now benefit from improved care, a better quality of life and reduced healthcare costs.
The diagnosis and treatment of patients with Maturity Onset Diabetes of the Young (MODY) has been revolutionised by the research of Professors Andrew Hattersley (FRS) and Sian Ellard at Exeter. Prior to this research, up to 90% of patients with MODY were misdiagnosed as having type 1 or type 2 diabetes. To address this, the team developed new tests and integrated these into routine diagnosis. They showed that patients could be stratified to achieve delivery of the most appropriate therapy and, as a result, as many as 15000 patients worldwide have now gained a better quality of life.
Insulin derivatives that stem directly from structural work carried out within the York Structural Biology Laboratory (YSBL) are now the standard treatment for insulin-dependent diabetes for some 35 million patients worldwide. The successful development of new insulin drugs hinged upon controlling their speed of action following intravenous administration. This speed of action is controlled by insulin's degree of aggregation, which, in turn, is determined by protein-protein interactions. Understanding, modifying and controlling these interactions depended on detailed structural studies of insulin, insulin mutants and insulin derivatives. The most widely used derivatives were developed following structural work carried out within YSBL in the Department of Chemistry. The research has had economic impact through sales of the insulin drugs (over $6 billion in 2012) and major health impacts on diabetics worldwide.
Long-standing research led by Prof. O'Rahilly (Department of Clinical Biochemistry) into the genetic and biochemical basis of severe insulin resistance syndromes, has led to improvements in diagnosis and care of patients internationally. These advances have facilitated revision of existing clinical classifications and implementation of novel diagnostic and management algorithms for these conditions. The clinical applicability of this research was recognised in 2011 by the Department of Health-England who have commissioned a national severe insulin resistance service in Cambridge, with support totalling ~£450,000 per annum.
Understanding and finding treatments for rare disease represents a major challenge across medicine. We have shown this is possible for rare muscle channelopathies and our work has directly benefited the lives of patients. Our 15 year basic research programme has elucidated the genetic architecture and identified new disease mechanisms for these disabling muscle conditions. We also determined the true disease frequency through the only UK epidemiology study. We translated fundamental research into new DNA-based diagnostic testing and electrophysiological diagnostics for rapid and reliable diagnosis. Our research led directly to our centre being commissioned by the NHS (£6m) as the only UK centre for diagnosis and management and we established the UK NHS national genetics channelopathy reference laboratory. We have built the world's largest genetically stratified patient cohorts which allowed us to lead the first international randomised controlled trial. This trial showed clear efficacy of a reprofiled mexiletine. This led to a successful European orphan product status application for this indication and national treatment guidelines.
The University of Oxford's United Kingdom Prospective Diabetes Study (UKPDS) was a landmark 30-year clinical trial, reported in over 80 academic research papers between 1983 and 2008. It showed beyond doubt that diabetic complications, previously thought to be inevitable consequences of the condition, could be delayed or prevented by improved treatment from the time of diagnosis. These findings have had a profound influence on the management of type 2 diabetes, clinical guidelines, and standards of care, and have reduced diabetes-related complications worldwide, lowering the incidence of blindness, kidney failure, amputation, heart attack and stroke.
Research conducted at King's College London into the mechanisms underlying hypoglycaemia unawareness in type 1 diabetes mellitus (T1DM) and novel technology for reducing the risk of hypoglycaemia has led directly to innovative changes in the management of diabetes. These include UK and worldwide development and dissemination of the government-recommended `Dose Adjustment for Normal Eating' (DAFNE) programme and on-going development of continuous subcutaneous insulin infusion (pump) therapy, now used by over 18,500 people with T1DM in the UK.
Diabetes research at University of Ulster (Ulster) addresses the unmet need of industry for new and more effective commercially applicable approaches for diabetes therapy. We have generated a new class of innovative peptide therapeutics resulting in a strong portfolio of intellectual property, significant international recognition, financial investment and job creation, with commercialisation through Ulster's technology transfer company, Innovation Ulster (IUL), and the Ulster start-up company, Diabetica Ltd. Our substantial interactions with industry have resulted in the licensing and further development of our international patents on stable incretin peptides for diabetes and, through our discovery of their positive effects on cognition, for treatment of Alzheimer's disease. This work has provided industry with new and commercially viable approaches to significantly improve the lives of people with diabetes and related neurodegenerative disease.
It is now widely recognised that the evaluation of treatments for chronic conditions needs to consider impacts on quality of life as well as quality of health. Research in the Health Psychology Research Unit since 2011, and for over 20 years previously in the Department of Psychology at Royal Holloway, has generated a series of Patient-Reported Outcome Measures (PROMs) validated in over 100 languages. These PROMs have been used by every major pharmaceutical company in the world to measure the impact of new treatments on quality of life and other patient reported outcomes, and have delivered major benefits to people with diabetes and other long-term medical conditions. These PROMs have also delivered substantial economic and commercial impacts through cost-saving in the NHS, licence fee income raised through the spin-off company Health Psychology Research (HPR) Ltd, and contributions to the development of best-selling drugs.
Research from the University of Brighton's Diabetes Research Group (DRG) has underpinned the translation of beta-cell replacement therapy into clinical application for the treatment of type 1 diabetes (T1D) to establish the world's first government-funded islet transplant service at six new UK islet-transplant centres. As a consequence, the first 65 successful islet transplants were performed, reducing the incidence of hypoglycaemic events by >95% and providing a life- changing therapy for patients. Through a leadership role in Diabetes UK, BONE integrated the interests of stakeholders and professionals to establish a new model for diabetes care. With the Juvenile Diabetes Research Foundation, in 2013 he launched in Parliament the first UK T1D Research Roadmap.