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Veterinarians have long recognised health problems associated with in-breeding and extreme conformation in various pedigree dogs. However, the `Pedigree Dogs Exposed' documentary in 2008, which particularly featured the plight of Cavalier King Charles Spaniels (CKCS), and resultant independent inquiry reports, to which RVC contributed, brought the extent and severity of the issue into the public eye. RVC's ongoing programme of research linked to interaction with stakeholders has contributed to the changes in breed standards instituted by the Kennel Club (KC); understanding of underlying principles governing the relationship between structure and function and affecting desired traits; developing tools to address conformation-related health problems; and driving changes in breeding practice leading to healthier dogs.
RVC research has helped transform differential diagnosis of canine heart disease, in first opinion veterinary practice, by demonstrating the value of peptide biomarkers and collaborating with diagnostics companies to ensure the findings have been translated into commercial assay kits available around the world. Contributions to major clinical trials have complemented this through improvements in canine cardiac disease treatment. This has benefitted dogs and their owners through improved and prolonged canine health; and has additionally delivered new guidance for professional practice, and economic value through increased therapeutic product sales and novel diagnostic services.
Impact: Health and welfare; policy in the form of national and international guidelines; diagnostic service; engagement with patient groups.
Significance: UoE-formulated diagnostic criteria adopted by the World Health Organisation (WHO), the European Centre for Disease Prevention and Control (ECDC) and US Centers for Disease Control and Prevention (CDC), enable reliable case ascertainment and longitudinal study of disease trends. The UoE Creutzfeldt-Jacob Disease Unit acts as an international reference centre for diagnosis. Case ascertainment has improved.
Beneficiaries: Patients with prion disease and their families, policy-makers, the NHS, charities.
Attribution: The UoE CJD Unit led the work with international collaborators.
Reach: Worldwide; diagnostic criteria are WHO-endorsed and have been adopted worldwide. Pooling of data across Europe has enabled assessment of 11,000 cases of sporadic CJD.
Research conducted by Professor TM Cox has led to several advances in the management of lysosomal storage disorders; i) development of miglustat (Zavesca®); now available throughout the world (EMA and FDA approved) for adult patients with Gaucher's disease and throughout the European Union and five other countries worldwide for adult and pediatric patients with Niemann- Pick type C disease, ii) development of the potential successor eliglustat; now in Phase 3 clinical trials, iii) identification of a biomarker for Gaucher's: CCL18/PARC, now incorporated into NHS standard operating procedures for monitoring therapeutic intervention. His pre-clinical research into gene therapy for Tay-Sachs disease also helped establish the NIH-funded Gene Therapy Consortium and gain the FDA's pre-IND approval for clinical trials in 2013, which together have raised public awareness of this disease.
Our biomarker research and underpinning technologies have commercially impacted upon the global R&D strategies of Unilever, Philips and Mars, realising new market areas for them, resulting in several million GBP invested in related R&D as well as "claim support" for products both in development and already available on shelves. Unilever have adopted biomarker outcomes as endpoints in clinical trials of new products, and Philips and Mars are developing with us saliva-based near-patient diagnostic tests for the human and small animal markets. We have also spun out two SME's: A) Oral Health Innovations (OHI) Ltd has developed online risk and disease analysis software for oral conditions, which was piloted, adopted and launched by Denplan, the UKs largest dental capitation plan operator (accessing 6500 dentists and 1.8 million patients), at the 2013 annual British Dental Association conference; and B) GFC Diagnostics makes SmokeScreen™ a non-invasive, sensitive and objective saliva test developed from our biomarker research at Birmingham University. Both technologies have already provided demonstrable social and commercial impact and given their uptake to date, will also deliver economic, environmental and health impacts.
Jayne's team have co-ordinated a sequence of randomised clinical trials, that have defined the standard of care for ANCA vasculitis treatment and shaped national and international guideline statements, NHS national commissioning guidance and an on-going NICE assessment. Together with Ken Smith his group have pioneered the use of the B cell-depleting agent rituximab, in vasculitis, contributing key evidence that led to its licence approval (USA and EU) for this indication. Ken Smith's group supported by Jayne's clinical team have discovered novel therapeutic biomarkers, patented and being assessed in Phase II clinical studies, that promise to deliver "personalised medicine" in this and related conditions. These activities have harmonised the management of vasculitis, are improving patient outcomes, and have provided a resource for on-going scientific and clinical studies.
Bristol University's School of Veterinary Sciences, a global leader in feline medicine, was the first UK centre to develop and commercially offer polymerase chain reaction (PCR) and quantitative (q) PCR assays to detect a range of feline infectious and genetic diseases. Since 2008 there has been a dramatic increase in the number of qPCR tests performed, with over 35,000 tests carried out between 2008 and 2013. The results of genetic testing have informed breeding programmes and resulted in a reduced prevalence of genetic disorders such as polycystic kidney disease (PKD). The results of testing for infectious diseases have informed diagnosis and treatment modalities and, together with the genetic testing, have contributed to significant improvements in feline health and welfare. This work has also generated commercial income in excess of £1.7M, which has been used to further research into feline infectious and genetic diseases.
Systemic sclerosis (SSc) is an important, but uncommon, connective tissue disease with high mortality and has a major non-lethal morbidity. Research at UCL has been instrumental in defining modern management of SSc and has contributed in three main ways. First we have defined the importance of regular proactive screening of cases, secondly we have defined the use of immunosuppression and thirdly we have delineated important clinical and laboratory subsets of SSc that underpin an individualised (or personalised) approach to assessment and treatment. These topics exemplify stepwise progress in management of SSc that also has direct relevance to other more common medical conditions.
The Ethiopian wolf is the most endangered carnivore in Africa. It is chiefly threatened by rabies outbreaks that occur every 5-10 years with a mortality rate of up to 77% in affected populations. Dr Claudio Sillero-Zubiri and colleagues have developed a novel low-coverage vaccination strategy, now at the heart of a strategic plan to protect this species from extinction. Containment of rabies through a cordon sanitaire protects these rare wolves beyond the initial outbreak, offering a potential model for wildlife disease management elsewhere, and significant socio-economic and health benefits for the communities living in and around wolf areas.
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.