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Dementia is one of the greatest problems facing society today, both in financial terms and in terms of the quality of life of patients and caregivers. Newcastle research identified that cholinesterase inhibitors (CHEIs), originally licenced for use in Alzheimer's disease, would be of greater benefit in two other types of dementia; Lewy body dementia and Parkinson's disease. CHEIs are now recommended in national and international guidelines as a treatment for the cognitive and psychiatric symptoms associated with both of these conditions, which previously had no effective treatment. CHEIs are also licenced worldwide for use in Parkinson's dementia, and are used off- licence across the world as a first-line treatment for dementia with Lewy bodies.
Research at UCL has greatly contributed to the understanding of the dopaminergic system in Dementia with Lewy bodies (DLB) with an initial publication in Lancet 1999 showing that patients with DLB have reduced uptake of dopamine transporter compared to patients with Alzheimer's disease and that this could be a useful biomarker for DLB. Since then the research conducted on imaging of dopamine transporter uptake has had national and international impact and significantly contributed to a change made in the Revised Clinical Criteria for the diagnosis of Dementia with Lewy bodies (McKeith et al 2005) which now includes "low dopamine transporter uptake in the basal ganglia demonstrated by SPECT imaging" as a "suggestive feature" for DLB.
Newcastle research on dementia contributed two aspects that helped to shape high-level policy: first that prevalence of the condition was higher than previously suspected, with implications for care of the ageing UK population. Secondly, that patients often experienced long delays before a diagnosis of dementia was given, leading to distress both for patients and their families. This research informed policy documents such as the Prime Minister's 2012 Challenge on dementia and national guidance in the form of commissioning packs. Patients benefit from more timely diagnosis with a better understanding of their needs and wishes and the NHS benefits through potential reductions in long term care costs.
CANTAB-Paired Associates Learning (PAL) was developed to detect early memory problems in Alzheimer's disease; and was recently (in 2012) launched by Cambridge Cognition (floated on the London Stock Exchange in April 2013) as a mobile (iPad) application (CANTABmobile™) suitable for use in GP clinics. This and other cognitive tests from the CANTAB battery have also been employed in 77 clinical trials since 2008, involving hundreds of sites world-wide, by most of the major pharmaceutical companies and by biotech, device and nutraceutical companies. CANTABmobile™ currently has 166 licensed user-practitioners including six clinical commissioning groups implementing the national initiative for early diagnosis.
Dementia poses substantial public health and societal challenges for Europe as there is currently no cure, and it is estimated that 10 million Europeans will be living with the disease in 2040. Good quality information allows for decision-makers to establish appropriate health policies and target resources where they are needed and where they are effective. The ALCOVE project (2011-2013) established a European network where knowledge on dementia could be shared and developed a series of recommendations for improving dementia care and quality of life across Europe. A particular strand of research within the project on timely diagnosis of dementia led by Worcester's Association for Dementia Studies has already stimulated policy debate on this issue in the UK and elsewhere in Europe, while a `toolbox' developed through the project for those living with dementia and their carers and for health and social care professionals has informed care practice.
Neuroblastoma is a paediatric cancer that arises from the sympathetic nervous system. The average age at diagnosis is 18 months and the disease accounts for approximately 15% of all childhood cancer-related deaths. Determining optimal treatment for individual patients is crucial for increasing chances of survival and for reducing side effects of chemotherapy and radiotherapy. Newcastle-led research identified unbalanced 17q gain as the most common segmental chromosomal abnormality (SCA) in patients with neuroblastoma; this was present in more than 50% of patients. Gain of 17q is now one of the key SCAs used to determine treatment for patients in a European neuroblastoma trial and in UK treatment centres. Newcastle research also led to the development of a simple diagnostic test for the detection of the main SCAs in neuroblastoma.
Research by Professor Carol Brayne, has led to increased understanding and awareness of dementia as a key public health issue of our time. Outcomes of her DH/MRC funded longitudinal Cognitive Function and Ageing Studies (CFAS) have contributed to national and international health policy on dementia as well as public debate.
Specifically, the CFAS study provided evidence that was used in the highly influential report "Dementia UK" which led to the development of the 2009 National Dementia Strategy. Results from CFAS have increased healthcare workers' understanding of the condition, such as the complexity of cognitive impairment and the relationship between illness and disability.
Research carried out by Professor David Smith of the University of Oxford established that B vitamins could slow the rate of Alzheimer-related brain atrophy and cognitive decline in people with mild cognitive impairment (MCI), an early stage of Alzheimer's disease which is common in the elderly. Since 2008 the impact on sales and marketing of B vitamins worldwide has been significant; [text removed for publication], and over-the-counter and prescription B vitamin products marketed as helping to maintain memory function have achieved sales worth many millions of US dollars. Some doctors now prescribe B vitamins for the group of MCI patients identified by Smith as being most at risk.
Research at the University of Nottingham has defined the clinical phenotype and management of lymphangioleiomyomatosis, a rare and often fatal multisystem disease affecting 1 in 200,000 women worldwide. The group has led the development and evaluation of new therapies and diagnostic strategies which are now part of routine clinical care. The research has underpinned the transformation of this previously under recognised and untreatable disease into a condition recognised by respiratory physicians, with international clinical guidelines, patient registries, clinical trials, specific treatments and a UK specialist clinical service.
The Leicester Cilia Group (LCG) established methods to study ciliary damage and dysfunction, transforming the diagnosis and management of Primary Ciliary Dyskinesia (PCD), a genetic disorder that causes severe permanent lung damage in children. The group developed diagnostic methods, adopted in the UK and internationally, that increased the accuracy and speed of diagnosis, uncovering a number of previously unrecognised phenotypes. The group was instrumental in the establishment of the first nationally funded diagnostic service (three centres, including Leicester) in the world. This has resulted in the group jointly leading a successful bid (2012) to set up the first nationally funded management service for children with PCD.