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Although, by definition, individually rare, the cumulative burden of `rare disease' is significant, with as many as 3m affected individuals in the UK. The University of Manchester (UoM) has an exceptional record in rare disease gene identification, with 29 such genes defined since 1993. This research paved the way for clinical diagnostic testing for patients and their families, demonstrating the immediate translational impact of gene discovery. The research has resulted in a reduced diagnostic burden for patients and health services and has enabled the provision of more effective counselling. Testing for genes identified at UoM is now offered in more than 140 laboratories in more than 30 countries worldwide. More than 1,100 patients have been tested for mutations in TCOF1, BEST1, IRF6, SAMHD1 and C9ORF72 in UK NHS laboratories alone.
Research at the University of Manchester (UoM) has changed the landscape of medical care and research in fungal infections internationally. The impacts include: the world's first commercialised molecular diagnostic products for aspergillosis and Pneumocystis pneumonia (£10m investment); pivotal contributions to the preclinical development (£35m investment), clinical developments and registrations of 3 new antifungals with combined market share of ~$2 billion; one (voriconazole, 2012 sales >$750m worldwide) now first line therapy for invasive aspergillosis with improved survival of 15-20%; and internationally validated methods to detect azole resistance in Aspergillus (an emerging problem partly related to environmental spraying of azole fungicides for crop protection).
Research conducted at the University of Manchester (UoM) has brought about significantly improved management of neurofibromatosis type 2 (NF2) and neurofibromatosis type 1 (NF1). The demonstration of a survival advantage in NF2 from specialist management centres by Evans and the pioneering work on brain stem/cochlear implants by Ramsden and team were deciding factors for the creation of nationally commissioned services for NF1 and NF2 in 2009 and 2010. All 850 patients with NF2 in England and ~800 complex NF1 patients are now managed through the national services. This specialist management of neurofibromatoses leads to improved life expectancy.
15m people have a stroke each year worldwide. In England alone, stroke generates direct care costs of £3bn and a wider economic burden of £8bn. Service users report high levels of unmet need in relation to cognitive dysfunction (e.g. concentration). Improving cognition was the number one priority agreed by users and providers (James Lind Alliance, Lancet Neurology 2012). Research led by the University of Manchester (UoM) underpins recommendations in several recent clinical guidelines for stroke management and rehabilitation in the UK and internationally. Our 2012 aphasia trial and qualitative study made key contributions to the recommendations in the recent NICE (2013) and Intercollegiate Stroke Working Party (2012) guidelines. UoM-led Cochrane reviews (e.g., neglect, apraxia, perception) have directly influenced recommendations in guidelines produced by the Scottish Intercollegiate Guidelines Network, the European Stroke Organization and the Australian National Stroke Foundation.
People who develop psychosis (1% of population) typically experience lengthy delays (months to years) before treatment. Researchers at the University of Manchester (UoM) established a concrete and significant association between delay in treatment of the first episode of psychosis and outcome. We demonstrated that outcome of psychosis could be improved considerably if these lengthy delays were reduced. This research influenced policy and practice in the UK and abroad. Policy changes included the establishment of early psychosis teams dedicated to early detection and treatment (50 in England alone). Practice changes included amendments to clinical guidelines in the UK and abroad that now require clinicians to respond urgently to a first episode of psychosis. These changes to clinical practice have increased the proportion of patients with a short DUP from 55.6 to 77.4%.
40% of all cancer patients, who are cured of their disease, receive radiotherapy as part of their treatment. The number of cancer cures could be increased if the application of radiotherapy could be improved. Research at the University of Manchester (UoM) has: led the way in identifying, validating and exemplifying the value of predictive/prognostic biomarkers of response to radiotherapy; and demonstrated, in clinical trials, the therapeutic efficacy of combining molecularly targeted agents with radiotherapy. Further, the pharmaceutical industry has incorporated these concepts into drug development programs, accelerating clinical drug development, and thus saving them time and money.
Falls are a common (30-40% >65 year olds fall each year) and important age-related health problem costing the NHS and social care >£5.6m each day. University of Manchester research has contributed to reducing the burden of falls worldwide.
We demonstrated that falls are better predictors of fracture than bone mineral density. We developed an effective intervention, reducing falls amongst older people by 30%; identified barriers to service use, and approaches to increasing uptake and adherence; and developed a fear of falling instrument (FES-I), now translated into 30+ languages and widely used in clinical practice.
By 2012, 54% NHS Trusts used training programmes based on our research. It moulded service provision nationally and internationally, changing the emphasis of how falls prevention services are presented, from "reducing risk" to "improving/maintaining independence".
WHO estimates that 600 million school-age children need deworming treatment and preventive intervention.
The University of Manchester (UoM) Immunology Group delivered an educational programme on the immune response and biology of parasitic worm infections in areas where worm infections are most prevalent, including Uganda and Pakistan, and with UK immigrant communities.
International benefits include health worker and educator training, which is critical for improving the understanding of worm infection and distribution of health education messages to endemic communities. Nationwide engagement activities provided immigrant communities and school pupils with improved awareness of global health issues and a greater understanding of immunology, and have inspired some participants to pursue careers in science.
Schizophrenia affects 1 in 100 people, with costs to society of £12 billion in England alone. Prevalence is similar across the world, with two thirds of people experiencing relapses despite medical treatment. Researchers at the University of Manchester (UoM) pioneered and disseminated psychological interventions for schizophrenia and related mental health problems which have led to improved outcomes for patients and families (e.g. 20% improvement in symptoms over standard treatment). We have implemented and delivered our intervention protocols, outcome measures, treatment manuals, and training programmes (with over 200 training courses delivered across the UK, Europe, USA, Asia, Australia and Africa). The impact of the research has been commended nationally and internationally by professional bodies (e.g., British Psychological Society, American Association of Behavior Therapy).
Congenital disorders are causes of major morbidity and mortality worldwide. Using autozygosity mapping in a local community of Pakistani origin who have high rates of inherited recessive disorders due to consanguineous unions, we have identified more than 30 novel disease genes. Isolating these previously unknown molecular defects has enabled us to develop key diagnostic assays, subsequently provided by clinical laboratories globally. Our work has provided thousands of patients with a definitive diagnosis, removing the need for complex clinical testing. Those affected can be offered focused management and early therapeutic intervention as well as carrier and prenatal testing for themselves and family members. Our findings also provide new research opportunities for previously undefined diseases.