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Congenital myasthenic syndromes (CMS) are diseases leading to muscle weakness. They are caused by various gene mutations. However, for many CMS patients with a `limb girdle' pattern of weakness, the gene was unknown, and they were unresponsive to the usual CMS treatments. Research by David Beeson and colleagues has changed this state of affairs. First, they showed that this form of CMS is caused by a mutation in a gene called DOK7. Second, they identified the mechanism by which the mutation causes the disease. Third, they discovered that patients with DOK7 mutations respond to a different class of drug, 03b22 adrenergic receptor agonists. DOK7 mutations are now routinely tested for in clinical practice, and these drugs are standard therapy.
The University of Liverpool (UoL) research identified corticosteroid treatment for more than 3 consecutive months as a risk for serious sepsis in Crohn's disease and an indicator of poor practice; there are 115,000 Crohn's disease patients in the UK. Following this, national audits of Inflammatory Bowel Disease (IBD), also under UoL leadership, showed reduction in inappropriate long term steroid from 46% of Crohn's disease patients in 2006 to 21% in 2010. These audits led to widespread adoption of National Service Standards for the Care of Patients with IBD. Death and hospital readmission rates for IBD patients were subsequently significantly reduced.
Two books and review/research articles in Italian have disseminated the findings from the underpinning research on creating false autobiographical memories and the dangers of inadequate interviewing techniques. This work has critically increased awareness in the Italian legal system amongst both barristers and judges, to the point of shaping the practice of interviewing witnesses in that country. It has also informed all verdicts on child sexual abuse by the Supreme Court of Cassation.
Autoimmune diseases are caused when the body attacks itself by making auto-antibodies against its own proteins. Research by Angela Vincent and her colleagues in Oxford over the past 20 years has led to the identification of specific auto-antibodies that cause several unexplained (and sometimes fatal) neurological diseases. The auto-antibodies are now used to diagnose these diseases, enabling appropriate treatment. Vincent's research has also developed better and more sensitive methods for detecting auto-antibodies. These methods are now widely used, both in her own lab (where she provides a clinical service, conducting over 100,000 tests since 2008) and worldwide. The tests have also been patented and licensed, generating over £500,000 since 2008.
This case study illustrates the development of novel research materials designed to improve quality of life and performance in different populations. Impact has been achieved through the use of research findings in professional practice, formulation of health-related policies and in the development of new indicators of health and well-being. RCSEP research has been used by international and national health-service organisations (e.g., European League Against Rheumatism, Evidence NHS), industrial establishments (e.g., ArtEZ Conservatoire, Netherlands; Royal Ballet), national governing bodies (British Heart Foundation), and professional bodies (e.g., Dance UK, International Association of Dance Medicine & Science).
Research on the environmental safety and toxicity of nanomaterials in fishes has had a global impact across both government and industry contributing to:
(i) Consensus building on biological effects allowing regulatory agencies/governments to make proper decisions on the hazard of nanomaterials to farmed fish and wildlife.
(ii) Critical evaluation of the internationally agreed process of toxicity testing to determine whether the current legislative test methods are fit for purpose and acceptable to the aquaculture industry.
(iii) Identification of national/international research priorities and policies via work with the OECD and the US Government.
(iv) Influencing government policy to support training and information for industry.
Professor Irving Kirsch has conducted a meta-analysis of both published and unpublished clinical trials of antidepressants (Kirsch et al., 2008). This analysis demonstrates that the effects of antidepressants are mostly placebo effects except with extremely severe depression. The analysis opened an international debate on antidepressant efficacy, influenced NICE guidelines for the treatment of depression (NICE, 2010), and led the scientific committee of the European Medicines Agency to reconsider its own approval of antidepressants (Broich, 2009). It also informed public opinion through widespread media coverage, and produced intentions to change prescribing habits among 44% of surveyed UK doctors. Public awareness of Kirsch's work is such that a class action has been taken against Pfizer, a large pharmaceutical company, and the Vatican has convened an international study meeting (14-15 June, 2013) to produce new recommendations for the treatment of depression.
Lower-limb amputation (LLA) is associated with significant mobility, quality-of-life (QoL) and socioeconomic burdens. Research undertaken at the University of Hull relates to the early rehabilitation of amputees and their risk of falling. The research has influenced practice nationally and internationally by prompting clinicians to use these evidence-based recommendations for muscle strengthening and balance training and has informed policy at national levels. It inspired the British Association of Chartered Physiotherapists in Amputee Rehabilitation (BACPAR), to implement standardised recommendations in the BACPAR Toolbox of Outcome Measures in prosthetic rehabilitation. The findings of the Hull Early walking aid for rehabilitation of transtibial Amputees — Randomised controlled Trial (HEART) study, the first RCT comparing the biomechanics and clinical outcomes of early gait re-training with different Early Walking Aids (EWA), has made a significant impact on current healthcare practice and guidelines.
COPD affects up to 3.5 million people in the UK and costs the NHS £700m pa. Over the last 15 years, research by Professor Calverley and colleagues at the University of Liverpool (UoL) has impacted significantly on the care of COPD patients. Specifically, this group showed that routine testing of COPD patients for the presence of bronchodilator reversibility was unreliable and did not predict clinical outcomes. This changed international guideline recommendations in 2007 and the Quality Outcomes Framework payments to GPs in 2009. They showed that oral corticosteroids accelerated recovery from exacerbations and that anti-inflammatory drugs, whether inhaled corticosteroids or PDEIV inhibitors, reduced exacerbations by 25% with a subsequent fall in the number and length of hospitalisations. This led to changed NICE guidance for corticosteroids in 2010 and drug registration with EMA and FDA for the PDEIV inhibitor treatment in 2011. Treatment in UK and Western Europe has changed as a result of this research.
Chronic lung infections due to Pseudomonas aeruginosa are the major cause of morbidity and mortality associated with cystic fibrosis. Some strains of P. aeruginosa transmit between patients (epidemic strains). The Winstanley group, at the University of Liverpool (UoL) since 1999, in collaboration with clinicians in Liverpool, has developed diagnostic PCR assays for identification of the most widely reported UK epidemic strains of P. aeruginosa. The NHS clinicians use these tests to make informed decisions about patient segregation leading to markedly reduced incidence of LES infections. Researchers internationally have adopted the UoL research results and strategy to tackle other transmissible strains and modify clinical procedures.