Researchers from William Harvey Research Institute have been responsible for some major discoveries.
£50 blood test could improve diagnosis of myocarditis and help patients get lifesaving treatment earlier. The first blood test to diagnose inflammation of the heart muscle (myocarditis) could be in use in as little as a year, following the discovery of a molecular signal in the blood by Queen Mary researchers funded by the British Heart Foundation (BHF). The research offers hope of a quick and cheap way of diagnosing the condition.
A study by Queen Mary University of London and the Budapest Semmelweis University has shown that having up to three cups of coffee a day is associated with a protective effect on heart health. It is also associated with a reduction in the overall mortality rate and the risk of stroke.
The researchers analysed data from 468,629 UK Biobank participants, who didn’t have any record of heart disease at the start of the research period. The participants were asked about their coffee-drinking habits and lifestyle (for example smoking and physical exercise) in a detailed questionnaire and data was also gathered on their individual cardiovascular risk factors such as high blood pressure, diabetes, and cholesterol level.
The participants were divided into three groups: non-coffee drinkers, light-to-moderate coffee-drinkers and those who consumed a significant amount of coffee a day. The researchers also used MRI scans to gain a better understanding of how coffee-drinking habits affect the anatomy and functioning of the heart over time. The beneficial effect was only found among ground coffee drinkers, not those who drank instant coffee. Those that drank decaffeinated ground coffee were also observed to have a lower all-cause mortality risk.
Artificial intelligence has been used for the first time to instantly and accurately measure blood flow, in a new study involving WHRI researchers. The results were found to be able to predict chances of death, heart attack and stroke, and can be used by doctors to help recommend treatments.
A further study has demonstrated that bad cholesterol has a direct negative effect on the structure and function of the heart above and beyond the well-known mechanism of atherosclerosis (fatty arteries). The findings add further evidence to the role of drugs that lower cholesterol (statins) having a beneficial effect on the heart.
Research by academics from WHRI and the University of Southampton has found links between poor bone quality and worse cardiovascular health in both men and women. They used a combination of imaging and blood biomarker data to investigate the relationship in the largest sample of people reported to date. Research shows that there may be links between the two conditions even after accounting for shared risk factors. This suggests that there may be biological pathways linking the two conditions, and investigating these links could reveal targets for novel drug therapies. Interestingly, they found that the mechanisms underlying the bone-heart relationship appeared different in men and women.
More diversity improves genetic research into cardiovascular disease, according to a new study co-led by Queen Mary University of London.
The researchers examined genes behind blood cholesterol levels for more than 1.6 million people to learn more about who might be likely to develop this important risk factor for cardiovascular disease. But unlike previous research that has typically focused on people with European ancestry, the new study included data of 350,000 participants with African, Hispanic, East Asian or South Asian ancestry.
The study found that genetic variants related to LDL cholesterol, the so-called “bad” cholesterol that can lead to blocked vessels, were mostly similar for all participants. However, a few unique variants came to light when comparing results across population groups.
And since this type of genetic study can help to predict who will develop high cholesterol and heart disease later in life, including individuals of different ancestries helps ensure that everyone can benefit from prevention strategies.
Studying people of diverse ancestries could also improve genetic research studies into many other diseases, the researchers suggest.
Staff from the William Harvey Research Institute have been active in research to better understand COVID-19, its impact on patients and the wider population, potential treatments and policy strategies. They have also been involved in volunteering at the Lighthouse Labs to support COVID-19 testing, and Professor Charles Knight was seconded as Chief Executive of NHS Nightingale Hospital London.
Researchers from WHRI and Barts Health NHS Trust have begun a programme of COVID-19 research across Barts Health hospitals, including NHS Nightingale Hospital London. Patients are recruited into clinical trials to understand why some people become severely affected and to investigate interventions to see if they can help more patients survive. The team will also curate a large, de-identified research data set that will create a rich data source for future COVID-19 research.
Recent research has identified potential treatments for COVID-19 after the discovery of five genes associated with the most severe form of the disease. A project led by the University of Edinburgh and involving William Harvey researchers made the discovery by studying the DNA of 2,700 patients in 208 intensive care units (ICUs) in the UK. The team compared the genetic information of Covid-19 patients in ICU with samples provided by healthy volunteers from other studies.
The team found key differences in five genes of the ICU patients compared with samples provided by healthy volunteers, which partially explain why some people become desperately sick with Covid-19, while others are not affected. Having highlighted the genes, the team were then able to predict the effect of drug treatments on patients, because some genetic variants respond in a similar way to particular drugs.
Co-author Professor Sir Mark Caulfield, Professor of Clinical Pharmacology at Queen Mary’s William Harvey Research Institute, said: “This is an amazing result, revealing multiple gene regions linked to the biology of COVID-19 infection.”
A further large scale study found that patients of Asian and black backgrounds suffered disproportionate rates of premature death from COVID-19. The work was led by Dr John Prowle and Professor Rupert Pearse from William Harvey Research Institute and Professor Chloe Orkin from the Blizard Institute. The researchers looked at data from all patients aged 16 years or over with confirmed SARS-CoV-2 infection and admitted to the five acute hospitals within Barts Health NHS Trust. After adjustment for age and sex, patients from Asian backgrounds were 1.49 times more likely to die compared to those from white backgrounds, and patients from black backgrounds were 1.30 times more likely to die.
Dr Deepti Gurdasani from WHRI and Devi Sridhar from the University of Edinburgh wrote an article, which explained why herd immunity by infection is not a strategy that should be considered for COVID-19. Using the example of Manaus in Brazil, where there has been a largely uncontrolled SARS-CoV-2 epidemic, they conclude: “herd immunity is likely not achieved even at high levels of infection and that it comes with unacceptably high costs…Governments need to focus on more precise nonpharmaceutical interventions, robust test/trace/isolate systems, border control measures, mass testing, better treatments, and development and delivery of vaccines. This is the most sustainable path for countries out of this pandemic.”
Professor Charles Knight received an OBE in the Queen’s birthday honours for services to the NHS and people with heart disease. Charles is Professor of Cardiology at William Harvey and Chief Executive of St Bartholomew’s Hospital. He is a consultant cardiologist, who has published more than 100 research papers and led the development of the Barts Heart Centre by merging cardiac services from across London to create the largest cardiac centre in the UK. In March 2020, he was seconded as Chief Executive of NHS Nightingale Hospital London, established in under two weeks to care for patients during the Covid-19 pandemic.
Children and young adults (aged 5 - 24) with Down Syndrome are four times more likely to be diagnosed with diabetes, according to new research led by Queen Mary University of London and King’s College London.
The study, published in Diabetes Care, examined just under 10,000 people with Down Syndrome and nearly 40,000 without. It is the first time that the researchers have looked at the incidence of diabetes and obesity in Down Syndrome across the life span in one of the biggest Down Syndrome cohorts in the world.
It suggests that annual health checks for children with Down Syndrome need to more closely monitor for excess weight, obesity and early signs of diabetes to help catch diabetes as early as possible, given how susceptible this group is and the complications it can bring in later life.
Dr Li Chan, senior author, Reader in Molecular Endocrinology and Metabolism and Consultant Paediatric Endocrinologist at Queen Mary said: “This study highlights the importance of early screening for diabetes and weight issues in people with Down Syndrome, especially children and young adults”.
WHRI academic, Dr Dunja Aksentijevic, won a prestigious Wellcome Trust Career Re-Entry fellowship for research into Type 2 diabetes, which affects over 500 million people worldwide and is one of the biggest health challenges of the modern era. Progression of Type 2 diabetes disrupts the supply of energy to the heart causing it to fail. Dr Aksentijevic commented “My fellowship will examine whether T cells cause heart inflammation in type 2 diabetes and whether this leads to faulty mitochondria and shortage of energy supply. It aims to develop a new metabolic therapy”.
Staff from WHRI have also shown that a cheap diabetes drug, metformin, could be used to stop blood vessels from leaking and reverse the damage caused during sepsis and multi-organ failure.
An international team of researchers, including experts from Queen Mary and the GIANT consortium, have identified over 12,000 genetic variants that influence a person’s height. The study, published in Nature, is the largest ever genome-wide association study, using the DNA of over 5 million people from 281 contributing studies. It plugs a sizeable gap in our understanding of how our genetic differences account for differences in height. Over 1 million of the study’s participants are of non-European – African, East Asian, Hispanic or South Asian – ancestry.
The 12,111 variants, which cluster around parts of the genome associated with skeletal growth, provide a powerful genetic predictor for height. The variants identified explain 40% of the variation in height for people of European ancestry, and around 10-20% for those of non-European ancestry.
Scientists have shown that in one in every 4,000 births, some of the genetic code from our mitochondria – the ‘batteries’ that power our cells – inserts itself into our DNA, revealing a surprising new insight into how humans evolve.
In a study published in Nature, researchers at Queen Mary and the University of Cambridge show that mitochondrial DNA also appears in some cancer DNA, suggesting that it acts as a sticking plaster to try and repair damage to our genetic code.
The team estimate that mitochondrial DNA transfers to nuclear DNA in around one in every 4,000 births. If that individual has children of their own, they will pass these inserts on – the team found that most of us carry five of the new inserts, and one in seven of us (14%) carry very recent ones. Once in place, the inserts can occasionally lead to very rare diseases, including a rare genetic form of cancer.
Professor Sir Mark Caulfield, Vice Principal for Health at Queen Mary, said: “I am so delighted that the 100,000 Genomes Project has unlocked the dynamic interplay between mitochondrial DNA and our genome in the cell’s nucleus. This defines a new role in DNA repair, but also one that could occasionally trigger rare disease, or even malignancy.”
An international team including researchers from WHRI delivered a research breakthrough for a leading cause of blindness. The team has identified a new protein linked to age-related macular degeneration (AMD) that could offer new hope for the diagnosis and treatment of the disease, which affects over 1.5 million people in the UK alone.
A new study from WHRI and EMBL’s European Bioinformatics Institute has uncovered the genes essential for supporting life, which could help researchers to identify mutations responsible for rare childhood diseases.
This study furthers our understanding of rare disease genes by providing clinicians and researchers with an open access resource, which can be used to identify high-quality candidates for rare disease mutations.
“Of particular interest for application to healthcare, we demonstrate that the set of genes that are essential for organism development is particularly associated with known human developmental disorders,” says Damian Smedley, Professor in Computational Genomics at William Harvey Research Institute. “This provides candidates for undiscovered causative genes for these conditions.”
A new drug called Baxdrostat has been shown to significantly reduce high blood pressure (hypertension) in patients who may not respond to current treatments for the condition, according to results from a phase II trial led jointly by a Queen Mary University of London researcher and colleagues at CinCor Pharma, USA.
Professor Morris Brown, co-senior author of the study and Professor of Endocrine Hypertension at Queen Mary said: “The results of this first-of-its-kind drug are exciting, although more testing is required before we can draw comparisons with any existing medications. But Baxdrostat could potentially offer hope to many people who do not respond to traditional hypertension treatment.
New research has identified a distinct way to control joint inflammation and arthritis. This new approach, based on the biology of the resolution of inflammation affords a novel way to control chronic pathologies; that is by enabling a reprogramming of the diseased tissue or organ. Harnessing the biology of pro-resolving mediators and receptors can pave the way to a new class of therapeutics christened ‘resolution pharmacology’.
On the wider implications of the research, study co-author Dr Trinidad Montero-Mendelez from the William Harvey Research Institute said: “… theoretically this approach could be valid in other settings characterised by fibroblast aberrant proliferation including fibrosis. Further development may lead to a precision medicine approach whereby drugs developed out of this research will be tailored on the patient characteristics.”
In a new study, researchers have developed a prototype drug that can heal cartilage and simultaneously help with pain associated with osteoarthritis. Dr Anne-Sophie Thorup commented: “We expect that in the future patients with osteoarthritis will just need to take the medication and will return to their active lifestyle and avoid surgery.”
A newly discovered molecule called ‘agrin’ has been found to provide long-lasting regeneration of bone and cartilage defects, as well as symptom relief, and could potentially play a role in treating osteoarthritis, according to early research. Dr Suzanne Eldridge said: “Our ultimate aim is to transform osteoarthritis from a disease that requires surgery, to one that just requires an injection.”
Researchers from William Harvey and the School of Engineering and Materials Science at Queen Mary have also used magnetism to keep drugs at disease sites. Being able to administer treatments locally, at the site of a disease can increase the effectiveness of drugs, whilst reducing side effects that result from the drug being released elsewhere in the body.
Antihistamines and similar drugs could slow down Huntington’s disease according to another study by researchers from WHRI. Their research indicates that targeting the histamine H3 receptor (H3R) – a well-established drug target for other conditions such as hay fever – could help to prevent imbalances in dopamine signalling that lead to brain-cell death and deficits in movement and memory.
Not 'one size fits all': more research is needed into technology for elite women's football to level the playing field. With the rapid rise in the growth and professionalism of women’s football in the UK, more research is needed into gender-specific technology to help elite female footballers perform at their best, according to research led by Queen Mary and co-authored by England captain Leah Williamson.
The findings, published in Sports Engineering identify ten areas where women-tailored technology is needed. These include football boots and kits.
Football boots
Women’s feet are a different shape to men, and female footballers face an increased risk of anterior cruciate ligament (ACL) and knee injuries by using incorrectly fitting men’s football boots. However, none of the larger manufacturers of football boots have yet to invest in women’s football boot designs. Currently, there’s only a single boot designed for women available on the market, created by a start-up company.
Kits
There is a clear gap in the research to understand what female players want and need from their kits. No research was found on kit design for comfort, fit or performance despite staff and players in elite women’s football voicing their concerns about these issues. The research said for many players white shorts can cause a fear of sweat marks and visible stains while women are on their periods. Sock sizing was also a problem as they were only available in men's fit. Whilst there are ongoing issues, progress has been made in some areas with the introduction of bespoke women’s fitted kits in elite women’s football since the FIFA 2019 Women’s World Cup.
The paper also looks at progress made and ongoing issues in other areas including football pitches, tracking devices, menstrual cycle tracking devices and other more overlooked areas.
Katrine Okholm Kryger, lead author of the paper and Honorary Lecturer in Sports and Exercise Medicine at Queen Mary, said: “Women’s football holds a complex position with both opportunities and challenges on the horizon. We need more research based on what women actually want and need. Football needs to come home for everyone – regardless of their gender.”
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