̽��ֱ�� of Cambridge - Department of Public Health and Primary Care

AI can be good for our health and wellbeing

cjb250 — Mon, 07 Apr 2025 08:00:08 +0000

Cambridge researchers are looking at ways that AI can transform everything from drug discovery to Alzheimer's diagnoses to GP consultations.

Chronic diseases misdiagnosed as psychosomatic can lead to long term damage

cjb250 — Mon, 03 Mar 2025 00:01:07 +0000

A study involving over 3,000 participants – both patients and clinicians – found that these misdiagnoses (sometimes termed “in your head” by patients) were often associated with long term impacts on patients’ physical health and wellbeing and damaged trust in healthcare services.

̽��ֱ��researchers are calling for greater awareness among clinicians of the symptoms of such diseases, which they recognise can be difficult to diagnose, and for more support for patients.

Autoimmune rheumatic diseases such as rheumatoid arthritis, lupus and vasculitis are chronic inflammatory disorders that affect the immune system and can damage organs and tissues throughout the body. They can be very difficult to diagnose as people report a wide range of different symptoms, many of which can be invisible, such as extreme fatigue and depression.

Dr Melanie Sloan from the ̽��ֱ�� of Cambridge led a study exploring patient-reported experiences from two large groups, each of over 1,500 patients, and in-depth interviews with 67 patients and 50 clinicians. ̽��ֱ��results are published today in Rheumatology.

Patients who reported that their autoimmune disease was misdiagnosed as psychosomatic or a mental health condition were more likely to experience higher levels of depression and anxiety, and lower mental wellbeing. For example, one patient with multiple autoimmune diseases said: “One doctor told me I was making myself feel pain and I still can’t forget those words. Telling me I’m doing it to myself has made me very anxious and depressed.”

More than 80% said it had damaged their self-worth and 72% of patients reported that the misdiagnosis still upset them, often even decades later. Misdiagnosed patients also reported lower levels of satisfaction with every aspect of medical care and were more likely to distrust doctors, downplay their symptoms, and avoid healthcare services. As one patient reported, it “has damaged my trust and courage in telling doctors very much. I even stopped taking my immunosuppressive medicine because of those words”.

Following these types of misdiagnoses, patients often then blamed themselves for their condition, as one individual described: “I don’t deserve help because this is a disease I’ve brought on myself. You go back to those initial diagnosis, you’ve always got their voices in your head, saying you’re doing this to yourself. You just can’t ever shake that. I’ve tried so hard.”

One patient described the traumatising response their doctor’s judgement had on them: “When a rheumatologist dismissed me I was already suicidal, this just threw me over the edge. Thankfully I am terrible at killing myself, it’s so much more challenging than you think. But the dreadful dismissiveness of doctors when you have a bizarre collection of symptoms is traumatizing and you start to believe them, that it’s all in your head.”

Dr Melanie Sloan, from the Department of Public Health and Primary Care at the ̽��ֱ�� of Cambridge, said: “Although many doctors were intending to be reassuring in suggesting a psychosomatic or psychiatric cause for initially unexplainable symptoms, these types of misdiagnoses can create a multitude of negative feelings and impacts on lives, self-worth and care. These appear to rarely be resolved even after the correct diagnoses. We must do better at helping these patients heal, and in educating clinicians to consider autoimmunity at an earlier stage.”

Clinicians highlighted how hard it was to diagnose autoimmune rheumatic diseases and that there was a high risk of misdiagnosis. Some doctors said they hadn’t really thought about the long-term problems for patients, but others talked about the problems in regaining trust, as one GP from England highlighted: “They lose trust in anything that anyone says…you are trying to convince them that something is OK, and they will say yes but a doctor before said that and was wrong.”

However, there was evidence that this trust can be rebuilt. One patient described having been “badly gaslit by a clinician”, but that when they told the clinician this, “She was shocked and had no idea … She was great. Took it on the chin. Listened and heard. Apologised profusely…For me, the scar of the original encounter was transformed into something much more positive.”

Mike Bosley, autoimmune patient and co-author on the study, said: “We need more clinicians to understand how a misdiagnosis of this sort can result in long-standing mental and emotional harm and in a disastrous loss of trust in doctors. Everyone needs to appreciate that autoimmune conditions can present in these unusual ways, that listening carefully to patients is key to avoiding the long-lasting harm that a mental health or psychosomatic misdiagnosis can cause.”

̽��ֱ��study authors recommend several measures for improving support for patients with autoimmune rheumatological diseases. These are likely to apply for many other groups of patients with chronic diseases that are often misunderstood and initially misdiagnosed.

They propose that clinicians should talk about previous misdiagnoses with patients, discuss and empathise with their patients as to the effects on them, and offer targeted support to reduce the long-term negative impacts. Health services should ensure greater access to psychologists and talking therapies for patients reporting previous misdiagnoses, which may reduce the long-term impact on wellbeing, healthcare behaviours, and patient-doctor relationships. Education may reduce misdiagnoses by encouraging clinicians to consider systemic autoimmunity when they assess patients with multiple, seemingly unconnected, physical and mental health symptoms.

Professor Felix Naughton, from the Lifespan Health Research Centre at the ̽��ֱ�� of East Anglia, said: “Diagnosing autoimmune rheumatic diseases can be challenging, but with better awareness among clinicians of how they present, we can hopefully reduce the risk of misdiagnoses. And while there will unfortunately inevitably still be patients whose condition is not correctly diagnosed, with the correct support in place, we may be able to lessen the impact on them.”

̽��ֱ��research was funded by LUPUS UK and ̽��ֱ��Lupus Trust.

Reference
Sloan, M, et al. “I still can’t forget those words”: mixed methods study of the persisting impacts of psychosomatic and psychiatric misdiagnoses. Rheumatology; 3 Mar 2025; DOI: 10.1093/rheumatology/keaf115

A ‘chasm of misunderstanding and miscommunication’ is often experienced between clinicians and patients, leading to autoimmune diseases such as lupus and vasculitis being wrongly diagnosed as psychiatric or psychosomatic conditions, with a profound and lasting impact on patients, researchers have found.

These types of misdiagnoses can create a multitude of negative feelings and impacts on lives, self-worth and care

Mel Sloan

Annie Spratt

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̽��ֱ��text in this work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. Images, including our videos, are Copyright © ̽��ֱ�� of Cambridge and licensors/contributors as identified. All rights reserved. We make our image and video content available in a number of ways – on our main website under its Terms and conditions, and on a range of channels including social media that permit your use and sharing of our content under their respective Terms.

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£10 million programme to use AI and state-of-the-art analytics to fight cancer

cjb250 — Wed, 22 Jan 2025 00:05:20 +0000

̽��ֱ��Cancer Data-Driven Detection programme will be led by Antonis Antoniou, Professor of Cancer Risk Prediction at the ̽��ֱ�� of Cambridge. It is funded by Cancer Research UK, the National Institute for Health and Care Research, and the Engineering and Physical Sciences Research Council.

̽��ֱ��programme aims to access and link data from different sources - including health records, genomics, family history, demographics, and behavioural data - to develop statistical models that help scientists accurately predict who is most likely to get cancer. Alongside this, the programme will develop powerful new tools that use AI to analyse the data and calculate an individual’s risk of cancer throughout their lifetime.

Professor Antoniou said: “Finding people at the highest risk of developing cancer, including those with vague symptoms, is a major challenge. ̽��ֱ��UK’s strengths in population-scale data resources, combined with advanced analytical tools like AI, offer tremendous opportunities to link disparate datasets and uncover clues that could lead to earlier detection, diagnosis, and prevention of more cancers.”

Over the next five years, the funding will build the infrastructure required to access and link these datasets, train new data scientists, create the algorithms behind the risk models and evaluate the algorithms and AI tools to ensure that they are giving accurate and clinically useful information about cancer risk. ̽��ֱ��scientific programme will be guided by partnerships with cancer patients, the public, clinical experts and industry, while addressing ethical and legal considerations to ensure that the models and tools work well in practice.

Professor Antoniou added: “Ultimately, [the Cancer Data Driven Detection programme] could inform public health policy and empower individuals and their healthcare providers to make shared decisions. By understanding individual cancer risks, people can take proactive steps to stop cancer before it gets worse or even begins in the first place.”

̽��ֱ��models generated from this research could be used to help people at higher risk of cancer in different ways. For example, the NHS could offer more frequent cancer screening sessions or screening at a younger age to those at higher risk, whilst those at lower risk could be spared unnecessary tests. People identified as higher risk could also be sent for cancer testing faster when they go to their GP with possible cancer signs or symptoms. Individuals at higher risk could also access different ways to prevent cancer.

Earlier diagnosis of cancer saves lives, yet according to analysis of NHS figures by Cancer Research UK, only 54% of cancers in England are diagnosed at stages one and two, where treatment is more likely to be successful. NHS England has set a target to diagnose 75% of cancers at stages one and two by 2028, and this will only be achieved with research and embracing new technologies to catch cancer earlier.

Last week, the Prime Minister announced backing for the power of big data and AI, which has the potential to help even more patients, including those with cancer.

Science Minister Lord Vallance said: “There are huge opportunities in AI to improve UK healthcare, from scans detecting illnesses earlier to bringing NHS waiting lists down by planning appointments more efficiently, and these will continue to develop.

“This investment in harnessing the potential of data to spot those at risk of cancer represents the sort of innovation the Government’s new AI Opportunities Action Plan sets out to realise, so this technology improves lives, while transforming public services and boosting growth.”

Minister for Public Health and Prevention, Andrew Gwynne said: “Using the latest technology could revolutionise how the NHS diagnoses and treats patients. As part of this government’s Plan for Change, we will transform our health service from analogue to digital, and innovative projects like this show exactly how we will achieve it.”

̽��ֱ��Cancer Data Driven Detection programme is jointly supported by Cancer Research UK, the National Institute for Health & Care Research, the Engineering & Physical Sciences Research Council, Health Data Research UK, and Administrative Data Research UK.

Head of Prevention and Early Detection Research at Cancer Research UK, Dr David Crosby, said: “ ̽��ֱ��single most important thing we can do to beat cancer is to find it earlier, when treatment is more likely to be successful. With half a million cancer cases per year expected in the UK by 2040, we need a major shift towards more accurate diagnosis and detection of early cancer.”

Find out how Cambridge is Changing the Story of Cancer

Adapted from a press release from Cancer Research UK

Cambridge researchers are to lead a £10 million project that could result in doctors being able to predict your individual chances of getting cancer and offer personalised detection and prevention.

̽��ֱ��UK’s strengths in population-scale data resources, combined with advanced analytical tools like AI, offer tremendous opportunities to link disparate datasets and uncover clues that could lead to earlier detection, diagnosis, and prevention of more cancers

Antonis Antoniou

BrianPenny (Pixabay)

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Back to BRCA: the discovery of a breast cancer risk gene

cjb250 — Mon, 07 Oct 2024 08:00:50 +0000

In 1994, a landmark paper identified a gene – BRCA1 – that significantly increases the risk of breast and ovarian cancers when faulty. Thirty years on, we look at the major impact it has had on how we understand and treat cancer – and why there is still much to learn.

Removing pint glasses could reduce beer sales by almost 10%

cjb250 — Wed, 18 Sep 2024 10:08:32 +0000

Alcohol consumption is the fifth largest contributor to premature death and disease worldwide. In 2016 it was estimated to have caused approximately 3 million deaths worldwide.

Professor Dame Theresa Marteau and colleagues at the Behaviour and Health Research Unit have shown previously that serving wine in smaller glasses is associated with a decrease in sales.

To see if this effect was seen with other alcoholic drinks, they approached venues in England and asked them to remove the pint serving size and instead offer two-thirds as the largest option for four weeks, with four-week non-intervention periods before and after as a comparison.

In a study published in PLOS Medicine, the team found that removing the pint reduced the daily mean volume of beer, lager and cider sold by 9.7%, although there was a slight increase in the amount of wine purchased, with one pub contributing to half of the increase of wine sales. They report that although customers did not complain, fewer than 1% of venues approached agreed to participate and the intervention involved only 12 establishments.

Professor Marteau said: “Alcohol harms our health, increasing the risk of injury and many diseases including heart disease, bowel, breast and liver cancers. While we may all enjoy a drink, the less we drink the better our health.

“As we’ve shown is the case with wine, removing the largest serving size for beer, lager and cider – in this case, the pint – could encourage people to drink less. This could be beneficial both to the nation’s health and the health of individuals.”

Further assessment is needed, particularly into whether people fully compensated for reduced beer consumption by drinking other alcoholic drinks, but the intervention merits consideration for inclusion in alcohol control policies. Smaller serving sizes could contribute towards reducing alcohol consumption across populations and thereby decrease the risk of seven cancers and other diseases.

Reference
Mantzari, E et al. Impact on beer sales of removing the pint serving size: An A-B-A reversal trial in pubs, bars, and restaurants in England. PLOS Medicine; 17 Sept 2024; DOI: 10.1371/journal.pmed.1004442

Adapted from a press release by PLOS Medicine

Cambridge researchers have shown that reducing the serving size for beer, lager and cider reduces the volume of those drinks consumed in pubs, bars and restaurants, which could have wider public health benefits.

While we may all enjoy a drink, the less we drink the better our health

Theresa Marteau

ELEVATE (Pexels)

Barman handing a customer a pint of beer

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Study reveals ‘patchy and inconsistent’ end-of-life care

cjb250 — Tue, 03 Sep 2024 08:00:57 +0000

These are among the conclusions of Time to Care: findings from a nationally representative survey of experiences at the end of life in England and Wales, a new report funded by end-of-life charity Marie Curie and produced by King’s College London’s Cicely Saunders Institute, Hull York Medical School at ̽��ֱ�� of Hull, and the ̽��ֱ�� of Cambridge.

Time to Care aims to describe the outcomes, experiences, and use of care services by people affected by dying, death, and bereavement in England and Wales. It is the final report from the Marie Curie Better End of life programme.

̽��ֱ��report found one in five dying people had no contact with their GP in the last three months of life.

Half of people surveyed (49%) said their dying loved one visited A&E at least once in their final three months of life, and one in eight people who died in hospital had been there less than 24 hours.

Half of respondents (49%) in the study were also unhappy with at least one aspect of the care the person who died received and of those one in eight people made a formal complaint. Fewer than half of respondents said they had a key contact person to co-ordinate their care. This meant responsibility for care fell on informal carers (family and friends), who often felt unprepared and unsupported.

Professor Stephen Barclay, from the Department of Public Health & Primary Care at the ̽��ֱ�� of Cambridge, a researcher on the project and a practicing GP, said: “GPs, Community Nurses and the wider Primary Care Team have a central and often under-recognised role in the care of people approaching and at the end of their lives. But they are under enormous pressure with increasing workloads, diminishing workforces and inadequate investment over recent years.

“Increasing numbers of people have been dying in the community during and following the COVID-19 pandemic, at home or in care homes. This important survey, undertaken at a time when the NHS was beginning to recover from the worst of the pandemic, reveals how clinical teams in all settings are struggling to meet the needs of this vulnerable patient group.

“ ̽��ֱ��out-of-hours period, which comprises two-thirds of the week, is particularly difficult for patients and their families. Across the UK, GPs and Community Nurses want to provide excellent palliative and end of life care, but the necessary ‘time to care’ is currently often squeezed. ̽��ֱ��new UK Government’s focus on care close to home is welcome. This report highlights the need for a radical repurposing of NHS funding to resource primary care for that ambition to be achieved.”

̽��ֱ��research report is based on a survey sent by the Office for National Statistics in 2023 to a nationally representative sample of people who had registered the death of a family member in the prior six to 10 months. Only non-sudden causes of death were included. Responses were received from 1179 people, making this the largest nationally representative post-bereavement survey in England and Wales for a decade.

Professor Katherine Sleeman, from King’s College London and lead researcher on the project, said: “This study reveals patchy and inconsistent provision of care for people approaching the end of life. While there were examples of excellent care - including in the community, in care homes, and in hospitals - the overall picture is of services that are overstretched, and of health and care staff lacking the time they need to consistently provide high-quality care. This means that dying people miss out on treatment and care for their symptoms, and families are left feeling unprepared and unsupported which has lasting emotional repercussions into bereavement.

̽��ֱ��researchers say the findings are concerning, considering the ageing population and the expected increase in palliative care needs across the UK. By 2048, there will be an additional 147,000 people in the UK who need palliative care before they die, an increase of 25%.

“Without a corresponding increase in capacity of primary and community care teams to support these people as they approach the end of life, the quality of care is likely to further suffer,” said Professor Sleeman. “It has never been more important to ensure high-quality palliative care for all who need it.”

Annette Weatherley, Marie Curie Chief Nursing Officer, added: “ ̽��ֱ��findings are shocking. Too many people are dying in avoidable pain, struggling with breathlessness and other debilitating symptoms because of the difficulties they face accessing the end-of-life care they need from overstretched GPs and other health and care workers.

“Without urgent action, gaps in access to palliative and end of life care will only grow.

“It is a critical time to improve palliative and end of life care. People at the end of life should be able to have the very best possible care. There is only one chance to get it right at the end of life. Yet, as the evidence shows, too many people are being failed by a system faced with extreme financial and workforce pressures. It’s time for Governments to step up and fix care of the dying.”

Professor Stephen Barclay is a fellow at Emmmanuel College, Cambridge.

Adapted from a press release by Marie Curie

One in three dying people in England and Wales was severely or overwhelmingly affected by pain in the last week of life, with bereaved people reporting how difficult it was to get joined-up support from health and care professionals at home.

This report highlights the need for a radical repurposing of NHS funding to resource primary care for that ambition to be achieved

Stephen Barclay

Alexander Grey

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Incidence of heart attacks and strokes was lower after COVID-19 vaccination

cjb250 — Wed, 31 Jul 2024 09:00:37 +0000

̽��ֱ��study, published today in Nature Communications, showed that the incidence of arterial thromboses, such as heart attacks and strokes, was up to 10% lower in the 13 to 24 weeks after the first dose of a COVID-19 vaccine. Following a second dose, the incidence was up to 27% lower after receiving the AstraZeneca vaccine and up to 20% lower after the Pfizer/Biotech vaccine.

̽��ֱ��incidence of common venous thrombotic events – mainly pulmonary embolism and lower limb deep venous thrombosis – followed a similar pattern.

Research led by the Universities of Cambridge, Bristol and Edinburgh and enabled by the British Heart Foundation (BHF) Data Science Centre at Health Data Research UK analysed de-identified health records from 46 million adults in England between 8 December 2020 and 23 January 2022. Data scientists compared the incidence of cardiovascular diseases after vaccination with the incidence before or without vaccination, during the first two years of the vaccination programme.

Co-first author Dr Samantha Ip, Research Associate at the Department of Public Health and Primary Care, ̽��ֱ�� of Cambridge, said: “We studied COVID-19 vaccines and cardiovascular disease in nearly 46 million adults in England and found a similar or lower incidence of common cardiovascular diseases, such as heart attacks and strokes, following each vaccination than before or without vaccination. This research further supports the large body of evidence on the safety of the COVID-19 vaccination programme, which has been shown to provide protection against severe COVID-19 and saved millions of lives worldwide.”

Previous research found that the incidence of rare cardiovascular complications is higher after some COVID-19 vaccines. For example, incidence of myocarditis and pericarditis have been reported following mRNA-based vaccines such as the Pfizer/Biotech vaccine, and vaccine-induced thrombotic thrombocytopenia following adenovirus-based vaccines such as the AstraZeneca vaccine. This study supports these findings, but importantly it did not identify new adverse cardiovascular conditions associated with COVID-19 vaccination and offers further reassurance that the benefits of vaccination outweigh the risk.

Incidence of cardiovascular disease is higher after COVID-19, especially in severe cases. This may explain why incidence of heart attacks and strokes is lower in vaccinated people compared with unvaccinated people, but further explanations are beyond the scope of this study.

Professor William Whiteley, Associate Director at the BHF Data Science Centre and Professor of Neurology and Epidemiology at the ̽��ֱ�� of Edinburgh, said: “ ̽��ֱ��COVID-19 vaccination programme rollout began strongly in the UK, with over 90% of the population over the age of 12 vaccinated with at least one dose by January 2022.

“This England-wide study offers patients reassurance of the cardiovascular safety of first, second and booster doses of COVID-19 vaccines. It demonstrates that the benefits of second and booster doses, with fewer common cardiovascular events include heart attacks and strokes after vaccination, outweigh the very rare cardiovascular complications.”

̽��ֱ��research team used de-identified linked data from GP practices, hospital admissions and death records, analysed in a secure data environment provided by NHS England.

Co-last author Dr Venexia Walker, Research Fellow at the ̽��ֱ�� of Bristol, said: “Given the critical role of COVID-19 vaccines in protecting people from COVID-19, it is important we continue to study the benefits and risks associated with them. ̽��ֱ��availability of population-wide data has allowed us to study different combinations of COVID-19 vaccines and to consider rare cardiovascular complications. This would not have been possible without the very large data that we are privileged to access and our close cross-institution collaborations.”

Reference
Ip, S et al. Cohort study of cardiovascular safety of different COVID-19 vaccination doses among 46 million adults in England. Nat Comms; 31 Jul 2024; DOI: 10.1038/s41467-024-49634-x

Adapted from a press release from Health Data Research UK

̽��ֱ��incidence of heart attacks and strokes was lower after COVID-19 vaccination than before or without vaccination, according to a new study involving nearly the whole adult population of England.

This research further supports the large body of evidence on the effectiveness of the COVID-19 vaccination programme, which has saved millions of lives worldwide

Samantha Ip

Paul_McManus

Vial of the AstraZeneca COVID-19 vaccine

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Genetics study points to potential treatments for restless leg syndrome

cjb250 — Wed, 05 Jun 2024 09:00:25 +0000

Restless leg syndrome can cause an unpleasant crawling sensation in the legs and an overwhelming urge to move them. Some people experience the symptoms only occasionally, while others get symptoms every day. Symptoms are usually worse in the evening or at night-time and can severely impair sleep.

Despite the condition being relatively common – up to one in 10 older adults experience symptoms, while 2-3% are severely affected and seek medical help – little is known about its causes. People with restless leg syndrome often have other conditions, such as depression or anxiety, cardiovascular disorders, hypertension, and diabetes, but the reason why is not known.

Previous studies had identified 22 genetic risk loci – that is, regions of our genome that contain changes associated with increased risk of developing the condition. But there are still no known ‘biomarkers’ – such as genetic signatures – that could be used to objectively diagnose the condition.

To explore the condition further, an international team led by researchers at the Helmholtz Munich Institute of Neurogenomics, Institute of Human Genetics of the Technical ̽��ֱ�� of Munich (TUM) and the ̽��ֱ�� of Cambridge pooled and analysed data from three genome-wide association studies. These studies compared the DNA of patients and healthy controls to look for differences more commonly found in those with restless leg syndrome. By combining the data, the team was able to create a powerful dataset with more than 100,000 patients and over 1.5 million unaffected controls.

̽��ֱ��results of the study are published today in Nature Genetics.

Co-author Dr Steven Bell from the ̽��ֱ�� of Cambridge said: “This study is the largest of its kind into this common – but poorly understood – condition. By understanding the genetic basis of restless leg syndrome, we hope to find better ways to manage and treat it, potentially improving the lives of many millions of people affected worldwide.”

̽��ֱ��team identified over 140 new genetic risk loci, increasing the number known eight-fold to 164, including three on the X chromosome. ̽��ֱ��researchers found no strong genetic differences between men and women, despite the condition being twice as common in women as it is men – this suggests that a complex interaction of genetics and the environment (including hormones) may explain the gender differences we observe in real life.

Two of the genetic differences identified by the team involve genes known as glutamate receptors 1 and 4 respectively, which are important for nerve and brain function. These could potentially be targeted by existing drugs, such as anticonvulsants like perampanel and lamotrigine, or used to develop new drugs. Early trials have already shown positive responses to these drugs in patients with restless leg syndrome.

̽��ֱ��researchers say it would be possible to use basic information like age, sex, and genetic markers to accurately rank who is more likely to have severe restless leg syndrome in nine cases out of ten.

To understand how restless leg syndrome might affect overall health, the researchers used a technique called Mendelian randomisation. This uses genetic information to examine cause-and-effect relationships. It revealed that the syndrome increases the risk of developing diabetes.

Although low levels of iron in the blood are thought to trigger restless leg syndrome – because they can lead to a fall in the neurotransmitter dopamine – the researchers did not find strong genetic links to iron metabolism. However, they say they cannot completely rule it out as a risk factor.

Professor Juliane Winkelmann from TUM, one of senior authors of the study, said: “For the first time, we have achieved the ability to predict restless leg syndrome risk. It has been a long journey, but now we are empowered to not only treat but even prevent the onset of this condition in our patients.”

Professor Emanuele Di Angelantonio, a co-author of the study and Director of the NIHR and NHS Blood and Transplant-funded Research Unit in Blood Donor Health and Behaviour, added: "Given that low iron levels are thought to trigger restless leg syndrome, we were surprised to find no strong genetic links to iron metabolism in our study. It may be that the relationship is more complex than we initially thought, and further work is required."

̽��ֱ��dataset included the INTERVAL study of England’s blood donors in collaboration with NHS Blood and Transplant.

A full list of funders can be found in the study paper.

Reference
Schormair et al. Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology, and risk prediction. Nature Genetics; 5 June 2024; DOI: 10.1038/s41588-024-01763-1

Scientists have discovered genetic clues to the cause of restless leg syndrome, a condition common among older adults. ̽��ֱ��discovery could help identify those individuals at greatest risk of the condition and point to potential ways to treat it.

By understanding the genetic basis of restless leg syndrome, we hope to find better ways to manage and treat it, potentially improving the lives of many millions of people affected worldwide

Steven Bell

DANNY G

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