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Malaria is endemic in more than 100 countries but its rapid and accurate diagnosis in locations remote from clinical laboratory facilities remains challenging yet desperately needed. This case study describes how scientific discoveries made in the field of digital data storage have been developed and applied to deliver a rapid, reliable and low cost malaria diagnosis sensor suitable for field application. Diagnostic devices have been both laboratory-tested and clinically trialled on over 900 patients under adverse field conditions in malaria endemic countries with very promising results. The health impact includes not only significantly reducing unnecessary treatments but potentially saving millions of lives.
The MRC Prion Unit was established at UCL in 1998 to address national public health issues posed by bovine spongiform encephalopathy (BSE) and variant Creutzfeldt-Jakob disease (vCJD). One of our key strategic priorities has been to create a validated blood test for vCJD in order to protect public health through the screening of donated blood and organs for transplantation. The blood test we have developed has been demonstrated to detect infection in over 70% of patients with vCJD with, to date, 100% specificity and is now in use at the National Prion Clinic for evaluation.
Research on clinically important red blood cell membrane proteins has helped avoid unnecessary treatment of Rhesus negative pregnant women and enabled the early diagnosis of a rare kidney disease. During the late 1990s, researchers at the University of Bristol, in collaboration with the Blood Service in Bristol, cloned, sequenced and characterised many red blood cell membrane proteins important for transfusion, including the Rhesus proteins and Band 3/AE1 (SLC4AE1 gene). The work on Rhesus proteins facilitated the use of less invasive genetic screening methods to ascertain whether treatment was required to avoid Haemolytic Disease of the Foetus or Newborn (HDFN). In the UK, 5,000 women have been screened since 2001. Within the first six months of implementation of a Danish national screening program in January 2010, 862 women avoided unnecessary treatment. Reducing unnecessary treatment of mothers has saved resources and avoided unnecessary exposure to human derived blood products. In addition, research that has identified specific SLC4AE1 gene mutations that cause the rare kidney disease called distal renal tubular acidosis has enabled the early diagnosis and treatment of the disease, resulting in improved outcomes for patients.
A low-cost, efficient, blood cell salvage technology (HemoSep) has resulted from research carried out at Strathclyde between 2008 and 2013. The novel technology has been patented and licensed to Brightwake Ltd., who manufacture the device in the UK and market it through a global distribution network. HemoSep has now been used in clinical centres across Europe, North America, and South Africa since its commercial launch in late 2012. The use of the device has been shown to reduce the need for donor blood transfusions in open-heart surgical patients by at least 1 unit (450 ml) with an associated reduction in transfusion related complications such as heightened inflammatory response and bleeding. The reduction in blood transfusions associated with the use of HemoSep has a considerable cost benefit to healthcare providers (in North America blood costs up to $1600 per unit). In addition, commercialisation of HemoSep has led to the creation of new manufacturing, marketing and sales jobs in the UK and overseas.
Research undertaken at City University London has led to the development of new blood oxygen optical and fibre optic sensors that advance clinical assessment in hospitals by monitoring a patient's arterial blood oxygen in specific organs or tissues. The applications of such sensors extend the boundaries of current state-of-the-art medical sensors in this field. They are capable of monitoring blood perfusion at times where the current commercial techniques fail to do so and have the advantage of providing organ-specific perfusion (oesophagus, bowel, liver, stomach, brain, etc.), enabling the effective monitoring of the wellbeing of specific parts of the body. These new sensors help clinicians monitor more reliably and provide the most appropriate treatment for very sick patients.
Meningococcal disease (MCD) is a major cause of morbidity and mortality worldwide. Underpinning research by Dr Carrol and colleagues at the University of Liverpool (1997-1999), has led to improved diagnosis and case confirmation, establishing Polymerase Chain Reaction (PCR) of meningococcal DNA as a gold standard test for diagnosis. The result is better management and therefore, impact on health and welfare of patients, and on practitioners. The work was conducted in collaboration with the Meningococcal Reference Unit, which provides a national diagnosis and surveillance service. The test was recommended in NICE guidelines in 2010, thereby impacting public policy.
University of Oxford researchers have developed the first safe, accurate and non-invasive prenatal diagnostic tests. After confirming that fragments of fetal DNA circulate in maternal blood, University of Oxford scientists used the polymerase chain reaction technique to accurately identify fetal DNA in maternal serum and plasma. This technique, known as cell-free fetal DNA testing, has enabled the first non-invasive prenatal genetic tests for the determination of fetal gender and the diagnosis of genetic disorders. Patented in 2001 and commercially released in 2011, cell-free fetal DNA testing is now recommended by the UK National Health Service as a safe and accurate alternative to invasive prenatal tests.
Perinatal morbidity and mortality is high in the UK compared to many developed countries. Serious congenital diseases may be detected in-utero and in some of these diseases fetal therapy may significantly improve outcome. The Fetal Research Group in Birmingham led by Professor Mark Kilby has made major contributions in improving knowledge of prevalence and of best management of major causes of fetal death, especially complications arising in monochorionic twins. These are cases where twins share the same placenta, in which complications are common and can lead to handicap and brain development problems as well as high fetal mortality rates. Critical appraisal of the evidence and novel research into these disordershasclearly evaluated therapeutic approaches and clinical management. This work has ultimately allowed development and implementation of evidence-based recommendations on managing multiple pregnancies for the first time in the UK.
Meningococcal meningitis is a life-threatening acute disease affecting 1.2 million people every year. Accurate and rapid diagnosis is essential for optimal patient response; however, bacterial culture tests are slow and undermined by the immediate administration of antibiotics, resulting in sterile cultures.
The Surrey team developed a rapid, non-culture-based diagnostic test for meningitis and septicaemia: this test is now routinely used for diagnosis of meningococcal disease worldwide, and was also instrumental in the implementation and monitoring of control measures for the disease, such as life-saving vaccination campaigns. Together these have contributed to the halving of adult mortality rates from meningitis worldwide.
Research at UCL on human haemolytic anaemias known as the `hereditary stomatocytoses' has improved diagnosis of these conditions, meaning that patients now avoid unnecessary and potentially life-threatening splenectomies, and inappropriate investigation and treatment for raised potassium levels. Identification of a common single nucleotide polymorphism that causes apparently normal red blood cells to leak salt when cooled (as is normal procedure with donated blood) has raised awareness of this issue in the NHS Blood and Transfusion service, with the result that individuals with this condition have been identified among existing donors, and work is underway to develop a screening method to exclude such individuals from donating blood that cannot be stored safely. Finally, the research has facilitated diagnosis of the recessive metabolic disorder phytosterolaemia by blood count, allowing these individuals to be given appropriate dietary treatment to control their cholesterol levels.