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The myeloproliferative neoplasms (MPNs) are chronic myeloid malignancies. Research led by Professor Green at Cambridge University reported that many MPN patients carry a JAK2V617F mutation and identified JAK2 exon 12 mutations associated with an MPN variant often previously diagnosed as idiopathic erythrocytosis. These outcomes led to tests for JAK2 mutations being established in the Eastern Region Haemato-oncology Diagnostic Service (Addenbrooke's hospital), providing a paradigm for other UK molecular diagnostic services. Tests for JAK2V617F and exon 12 mutations have greatly simplified, and improved the accuracy of, the diagnosis of MPN patients world-wide, and are now firmly embedded as front-line tests in national and international guidelines.
Researchers at the University of Manchester (UoM) have made a significant impact nationally and internationally on improving the outcome for children with acute lymphoblastic leukaemia (ALL) (~450 pa in the UK). The changes in clinical practice based on our research are now national standards of care for children with de novo and relapsed ALL in the UK and Ireland. Other international groups have adopted key findings from the results of our frontline trials. Our relapse protocol for childhood ALL underpins European and North American strategy for the management of relapsed disease.
Research conducted at UCL/UCLH over the last 20 years has enabled the identification of adults with acute leukaemia who are most likely to benefit from the use of stem cell transplantation, i.e. those with acute leukaemia in first remission. The treatment is highly intensive, potentially toxic and expensive high-dose chemotherapy followed by haemopoietic stem cell transplantation, and is inappropriate for some patients. The work has made a major contribution to the development of guidelines worldwide for the treatment of this disease. Improved patient selection for transplantation results in improved survival, less toxicity with improved overall quality of life, and a more appropriate use of NHS resources.
Sudden cardiac death causes 4.5 million deaths worldwide each year many of which could be prevented by implantable cardioverter defibrillators (ICDs), but these also carry risks. Research in the groups of Huang and Grace has led to diagnostic assays offering three times the predictive accuracy of current approaches in guiding cardiologists concerning indications for ICD implantation. The assay has been clinically trialled; since 2008, through the trial, the lives of three patients identified by the assay as at high risk were saved. Further work led by Grace and colleagues provided an improved, subcutaneous ICD (SICD); Grace also participated in a US-based clinical trial (NCT00399217) providing the evidence required for FDA approval supporting also later inclusion into NICE guidance. Since 2008 the SICD has been implanted in over 2500 patients in 16 countries.
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:
Impact: Health and welfare; the GRACE risk score (derived using data from 102,000 patients with acute coronary syndrome (ACS) in 30 countries) identifies high-risk ACS patients more effectively than do alternative methods.
Significance: GRACE is now a reference standard and has resulted in international guideline changes. It is estimated to save 30-80 lives for every 10,000 patients presenting with non-ST elevation ACS.
Beneficiaries: Patients with ACS; the NHS and healthcare delivery organisations.
Attribution: All work was led by Fox (UoE) with co-chair Gore (University of Massachusetts) and was developed from Edinburgh-based studies.
Reach: Worldwide: guidelines adopted in more than 55 countries; >10,000 downloads of app.
Over the past 20 years, the University of Oxford's Clinical Trial Service Unit (CTSU), within the Nuffield Department of Population Health (NDPH), has conducted some of the world's largest trials and collaborative meta-analyses of trials of antiplatelet therapy, including aspirin, that have together had a major ongoing and incremental impact on the treatment and prevention of cardiovascular disease. They have helped ensure that antiplatelet therapy is widely used both in the acute care of patients with heart attacks and for the secondary prevention of heart attacks and strokes in high-risk patients. This research has been recognised as the gold standard for international guidelines, and has been instrumental in changing prescribing labelling for aspirin.
Research at UCL firmly established tacrolimus as the optimal calcineurin inhibitor to use in immunosuppressive regimens following liver transplantation. Compared to ciclosporin its use improved graft survival by 6% and patient survival by 7%. Assuming 550 liver transplants per year in the UK since 2008, we can estimate that, with 90% of patients treated with tacrolimus and 10% ciclosporin, tacrolimus-based immunosuppression has resulted in 165 grafts and 192 lives being saved during the period 2008-13.
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.
Over the past ten years, the prescription of cholesterol-lowering statins has soared and they are now the most prescribed drugs in the UK and the US. However, this has raised concerns about inappropriate prescribing. University of Glasgow research has been pivotal in addressing this issue and has triggered revision of major international guidelines to stratify patients in the general population for statin therapy and guide statin use in the rheumatoid arthritis patient population. The identification of a statin-associated risk for diabetes prompted the European Medicines Agency and the US Food & Drug Administration to revise safety labelling for all classes of statins. This risk is now communicated to the 27 million patients in the UK and US who are prescribed statins.