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Myeloproliferative neoplasms (MPN) are a group of blood disorders that affect more than 9,000 people in the UK every year. King's College London (KCL) research on the biology, diagnosis and treatment of MPN has had the following significant impacts:
King's College London (KCL) researchers contributed to the discovery that increased C fibre nerve activity in the bladder is a major cause of overactive bladder (OAB) syndrome. Based on this insight, KCL researcher Professor Dasgupta, a surgical urologist at Guy's Hospital, and his team pioneered a new surgical technique for micro-injecting Botulinum Toxin-A (BTX-A) directly into the bladder to suppress C fibres and improve bladder control. The KCL team then conducted the world's first successful clinical trials into the minimally invasive injection of BTX-A n OAB patients. These trials received significant international media coverage. This cost-effective OAB therapy is now licensed by the EU and FDA, is recommended in national and international guidelines, and has significantly improved the treatment of a common health problem.
King's College London (KCL) researchers were the first to identify that an early sign of diabetic kidney disease was the presence of albumin in the urine, a condition known as albuminuria. Building on this finding, the KCL Unit of Metabolic Medicine designed and led in-house, national then international randomised controlled clinical trials with the aim of preserving kidney function in diabetic patients. Ultimately, KCL research established that several drug inhibitors of the renin-angiotensin-aldosterone system (RAAS) can control albuminuria, slow the deterioration of kidney function and significantly extend survival rates in diabetic patients. These drugs are now generically available, and their prescription is recommended by current international clinical guidelines across North America, Europe, Australia and Asia. This shows major impact in terms of reach and significance.
King's College London (KCL) research has made a major contribution to improving the quality of life for patients who have anaemia linked with chronic kidney disease. Studies undertaken by KCL researchers established that intravenous iron supplementation was required in anaemic patients with advanced kidney disease, in whom oral iron therapy was ineffective, and defined the best regimes for administration of intravenous iron. Subsequent KCL work on drugs that stimulate production of red blood cells (erythropoiesis) defined the target levels of haemoglobin to aim for in chronic kidney disease patients. Most recently, KCL researchers made the key discovery that the novel drug peginesatide for the first time enables the rescue of patients who develop a rare and potentially fatal reaction against erythropoietin (which is the commonest treatment for anaemia in chronic kidney disease). These KCL research studies have had a significant impact by making a major contribution to national and international clinical guidelines, including UK NICE guidelines and the 2012 National Kidney Foundation KDIGO Clinical Practice Guideline for Anemia in Chronic Kidney Disease.
Genetic research at King's College London (KCL) has had significant impact on the current and future care of people with motor neurone disease (MND). KCL researchers discovered several MND-causing genes, which have been taken up by diagnostic and research laboratories throughout the world. This has improved early diagnosis and predictive gene testing in high-risk families and enabled children to be born free of MND by pre-implantation genetic diagnosis. Research laboratories in academia and industry have used mutant genes in cellular and animal models to identify fundamental disease mechanisms and disease-critical pathways to advance drug discovery for this fatal disease.
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.
The use of a formulary to influence prescribing practice is common, with almost all hospitals possessing one that attempts to provide advice on the safe, effective and economic use of medicines. The Maudsley Prescribing Guidelines to Psychiatry steps beyond the function of a mere formulary and provides evidence-based guidance on the use of psychotropic medicines that influences prescribing on both a national and international basis. Now in its 11th Edition and translated into nine languages, much of the evidence in The Guidelines is generated by King's College London research. Additionally, this research is used in other guidelines, in clinical handbooks and in prescribing practices around the world.
Ataxia telangiectasia (A-T) is an inherited disease affecting multiple systems in the body, causing severe disability and death. Work led by Professor Malcolm Taylor at the University of Birmingham has been central to the biological and clinical understanding of this disease, from the identification of the gene responsible to the clarification of related conditions with different underlying causes. As a result of this work, within the 2008-13 period, his laboratory has been designated the national laboratory for clinical diagnosis of A-T — a service also offered internationally — and has also changed national screening policy for breast cancer, following his confirmation of the increased risks of A-T patients and those who carry a single copy of the gene for this type of tumour. Furthermore, he has contributed in a major way to patient support for this condition.
Research conducted by Professor Tim Goodship and co-workers at Newcastle has had a profound effect on the prognosis for patients with atypical haemolytic uraemic syndrome (aHUS). By engaging in research on the genetic factors underlying the disease they developed an understanding of the molecular mechanisms responsible. Identifying that the majority of patients with aHUS have either acquired or inherited abnormalities of the regulation of complement (part of the immune system) led to the establishment of a UK national service for genetic screening and treatment with the complement inhibitor eculizumab. As eculizumab is now available to patients in England, the progression to end-stage renal failure can be prevented and patients already on dialysis will soon be successfully transplanted.
An estimated 1% of UK adults suffer from rheumatoid arthritis and the long-term pain and disability associated with it, Historically, however, treatments focused on relieving symptoms and did not control the arthritis itself or prevent disability. An extensive series of clinical trials and associated research programmes at King's College London (KCL) over 20 years has now significantly improved treatment recommendations and thus quality of life for thousands of rheumatoid arthritis patients in the UK, Europe and other countries. Multicentre trials of intensive treatments using conventional drugs have extended the range of drugs available, established the effectiveness of early intensive treatment, and shown that early combination therapies are safe.