Latest news with #ChrisPonting
New York Post
3 days ago
- Health
- New York Post
Debilitating illness once dismissed as ‘yuppie flu' actually has genetic causes: study
Tired all the time? It might be in your DNA. A new study has uncovered striking genetic differences in people suffering from a devastating illness that causes extreme exhaustion, chronic pain and brain fog that can last for months, years or even decades. Researchers are calling the discovery a 'wakeup call' that could finally shift public perception of the poorly understood condition, once dismissed as a 'fashionable form of hypochondria' and labeled the 'yuppie flu' by doctors, despite its often debilitating effects. 3 The condition disproportionately affects women around the world. Maridav – Chronic fatigue syndrome, also known as myalgic encephalomyelitis or ME/CFS, is believed to affect 67 million people worldwide — including an estimated 3.3 million Americans. Until recently, little was known about what causes the crippling illness, which can turn a short walk into a major flare-up that leaves many patients bedbound with symptoms that rest doesn't relieve. For years, doctors categorized ME/CFS as a psychosomatic issue rather than a physical disorder. But a growing body of research, including the latest genetic findings, suggests there is a clear biological basis. 'ME/CFS is a serious illness and we now know that someone's genetics can tip the balance on whether they are diagnosed with it,' Dr. Chris Ponting, lead investigator at the University of Edinburgh, said in a statement. The study analyzed DNA samples from more than 15,500 people of European ancestry with ME/CFS as part of DecodeME, the world's largest dataset on the disease. Researchers found eight key regions of DNA where differences were far more common in ME/CFS patients than in the general population. 3 Human DNA may hold clues to why some people develop ME/CFS. vitstudio – Two of those DNA signals are linked to the body's response to infection, aligning with frequent patient reports that symptoms began after recovering from an infectious illness. Another genetic marker overlaps with chronic pain — a common complaint among ME/CFS sufferers. 'As DNA doesn't change with ME/CFS onset, these findings reflect causes rather than effects of ME/CFS,' the researchers wrote. 'These results are groundbreaking,' said Sonya Chowdhury, CEO of the charity Action for ME and DecodeME co-investigator. 'We've gone from knowing almost nothing about ME/CFS causes to pinpointing clear targets for research.' While researchers say the findings are not yet ready to guide diagnosis or treatment, they provide vital clues about the disease's origins and could pave the way for future breakthroughs. 3 Many people with ME/CFS say their symptoms first appeared after recovering from a viral illness. LuneVA/ – 'We are shining a laser light on eight precise areas of DNA, so that highly focused research can now be carried out,' Chowdhury said. 'We hope this attracts researchers, drug developers, and proportionate funding to ME/CFS — and speeds up the discovery of treatments.' Currently, there is no diagnostic test, effective treatment, or cure for ME/CFS, according to the Centers for Disease Control and Prevention. Instead, doctors typically focus on relieving symptoms through interventions such as medication, stretching and movement therapies, acupuncture, or massage. They may also recommend lifestyle strategies such as pacing, a method that helps ME/CFS patients manage their activity levels to reduce the frequency and severity of relapses while staying as active as possible. The study is currently a preprint from the University of Edinburgh and has not been peer-reviewed yet. The DecodeME team is urging researchers worldwide to tap into their dataset and launch new, targeted studies on ME/CFS, especially around these eight newly identified genetic signals.
Newsweek
3 days ago
- Health
- Newsweek
Study Finds Genetics Could Cause This Chronic Condition
Based on facts, either observed and verified firsthand by the reporter, or reported and verified from knowledgeable sources. Newsweek AI is in beta. Translations may contain inaccuracies—please refer to the original content. A new study has revealed that those with myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS) have notable genetic differences from the general population. The DecodeME research team, led by experts at the University of Edinburgh in Scotland, noted that, as DNA does not change following an onset of ME/CFS, the findings indicate that genetic signals may be a cause of the condition. "This is the first robust genetic evidence that there is a predisposition to ME/CFS written into our DNA," Chris Ponting, principal investigator of the study, chair of Medical Bioinformatics and investigator at the MRC Human Genetics Unit, Institute of Genetics and Cancer, at the University of Edinburgh, told Newsweek. "For years, people with ME/CFS have felt dismissed and their symptoms ignored," he said. DecodeME has been investigating many other diseases over the last 15 years, and Ponting said that, "in this sense, DecodeME has come 15 years too late." "ME/CFS research and people with ME/CFS should have had the benefit of its approach over all those intervening years," he said. "We think it's been delayed because ME/CFS is a highly stigmatized disease, and because it is highly biased towards women," he added, saying that now, DecodeME's research "puts ME/CFS on a more equal footing with other research and provides a clear map of where future research should now be focused." Stock image of a woman in pain lying in bed. Stock image of a woman in pain lying in Is ME/CFS? ME/CFS is a long-term condition that can affect different parts of the body, resulting in a wide range of debilitating symptoms. The most commonly recognized symptom is extreme fatigue, a degree of fatigue that far exceeds tiredness, which can limit a patient's ability to carry out daily activities, work and exercise, while also causing sleep problems like insomnia or non-restorative sleep. Other symptoms include cognitive issues and difficulty, affecting concentration and memory, as well as headaches, joint and muscle aches, flu-like symptoms, and many others. Many patients also notice their symptoms worsen following physical, mental or emotional exertion, which is known as post-exertional malaise, or PEM, and patients can take days to weeks to recover from these flares in symptoms. Depending on the severity of the condition, even a short walk or other activities that might seem insignificant to someone without the condition could trigger major flares in symptoms. The condition, therefore, has a profound impact on a patient's life, leaving many bedbound and others significantly limited in what they can do in a day. Tens of millions worldwide have the condition, with estimates on U.S. prevalence varying between just less than a million to 1.5 million, according to the American Myalgic Encephalomyelitis and Chronic Fatigue Syndrome Society. It typically affects more women than men, and in most cases starts following an infection, with the COVID pandemic increasing the number of cases, according to a January 2025 study in the Journal of General Internal Medicine. However, the condition can be easily misdiagnosed, according to ME Research UK, making it difficult to know the exact number of those with the illness. What Did the Study Find? The DecodeME study found eight different genetic signals between those with ME/CFS and those without. The researchers analyzed 15,579 DNA samples of those with ME/CFS and the DNA of 259,909 people without ME/CFS, all of European descent. The eight genetic signals found to be different between ME/CFS patients and those without the condition were involved in both the immune and the nervous systems, which the researchers said suggested there are immunological and neurological causes behind the illness. There were also at least two signals found to relate to the body's response to infection. "Finding variations in genes that differ between people with or without a disease can therefore point to what causes it," the researchers wrote. However, the researchers noted that as these differences can also be found in people without ME/CFS, the findings cannot "cleanly separate who is at risk and who is not, and therefore do not provide a definitive test." There was also no clear explanation found as to why more women than men get the condition, the researchers added. "The initial results of this huge study are ground breaking," Julia Newton, a consultant physician specializing in fatigue at the Newcastle Upon Tyne Hospitals and a medical director of the Academic Health Science Network in North East and North Cumbria, England, told Newsweek. "The research team from Edinburgh have shown that those with a diagnosis of ME/CFS have differences in their genes which suggests that there may be a biological abnormality in individuals that could make them more susceptible to getting ME/CFS or to having persistent disease," Newton, who was not involved in the study, said. File photo: participants walk through Frankfurt city center during a demonstration to support people with myalgic encephalomyelitis and/or chronic fatigue syndrome (ME/CFS) and to call for more research into the disease. File photo: participants walk through Frankfurt city center during a demonstration to support people with myalgic encephalomyelitis and/or chronic fatigue syndrome (ME/CFS) and to call for more research into the disease. Frank Rumpenhorst/dpa via AP The 'Stigma' Around ME/CFS When ME/CFS was first described 40 years ago, "the usual laboratory tests ordered by doctors came back normal," Dr. Anthony Komaroff, a professor of medicine at the Harvard Medical School and a senior physician at Brigham and Women's Hospital not involved in the study, told Newsweek. "This led some doctors to claim the illness was psychological, and that there were no underlying objective abnormalities," he said. He said that some still hold that view because, "in my opinion, they have not bothered to keep up with the science." "In fact, we now know there are multiple underlying abnormalities involving the brain, immune system, energy metabolism, vascular system, and gut microbiome," he said. "The DecodeME study provides additional evidence that ME/CFS is not primarily a psychological illness," he added. In light of that, Newton said that the findings are a "game changer for our understanding of the disease and also its perception." "For decades, those with ME/CFS have been stigmatized and confirming a genetic difference in those with the condition vindicates the struggle that the ME/CFS community has had, to recognize ME/CFS as a physical condition that impacts individuals with the same, or greater, severity as other chronic medical conditions," she said. Importantly, the researchers note that their findings reveal "no evidence that the eight ME/CFS genetic signals share common causal genetic variants with depression or anxiety," affirming that, despite the misconception, the disease is not psychological. "ME/CFS has often been misdiagnosed as depression or anxiety," Ponting said. "We checked whether DecodeME's eight genetic signals had been found before for other diseases, but drew a blank." Sir Simon Wessely, a professor of psychological medicine at King's College London told Newsweek that there is already "ample evidence that ME/CFS is not the same as depression, but that previous depression increases the risk of developing ME/CFS, which needs explaining, and I would be surprised if genetics does not play some part in this." He said that while it is understood ME/CFS is not an anxiety disorder, "anxiety can impede recovery." "The fact that ME/CFS involves both excessive physical and mental fatigue and fatiguability after both physical and mental exertion already tells us that the causes are most likely to be central, i.e., the brain, rather than peripheral—these new findings reinforce that, but we are still a long way from knowing why," he said. "Unravelling multigenic and multi factorial conditions such as ME/CFS is going to be a long haul, as those who have been researching the genetics of psychiatric disorders have already found out," he added. What Does This Mean For ME/CFS Treatment? "We've always said that DecodeME results will not lead directly to new treatments or diagnostic tools," Ponting said. "Rather, what they do is guide where further research needs to be focused." He said that scientists from around the world now need to "use their expertise to find out exactly what DecodeME's genetic signals mean and this, in turn, should help accelerate finding treatments for ME/CFS." Ponting said that some people with ME/CFS have informed DecodeME that the results have been "validating." "They tell us that these results will help them in conversations with medical professionals, family and friends, to be believed, taken seriously and to obtain support," he said. "Many also tell us that they are giving them hope, where there has been none before, and are lifting the burden from their shoulders of the guilt and self-doubt that they have built up from not being believed," he added. Komaroff said that he expected the DecodeME study "will increase research into the specific problems with the brain and immune system in people with ME/CFS, and this research may then lead to identifying possible new treatments." "I would like to think that it will generate even more interest in the scientific community to study the underlying biology of the illness, and more funding for those studies," he added. Newton said the findings "point towards potential targets for further study and then ultimately focused treatments." "I sincerely hope that this study, resets the narrative around ME/CFS, encourages further research in this debilitating disease and begins the path towards effective, evidence based treatments," she said. She added that "there is a long road ahead but I am optimistic that this is the start of a journey that will improve the lives of those with ME/CFS and perhaps even eradicate it."
The Guardian
4 days ago
- Health
- The Guardian
Scientists find link between genes and ME/chronic fatigue syndrome
Scientists have found the first robust evidence that people's genes affect their chances of developing myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS), a mysterious and debilitating illness that has been neglected and dismissed for decades by many in the medical community. Early findings from the world's largest study into the genetics of the condition pinpointed eight regions of the human genome that were substantially different in people with an ME/CFS diagnosis compared to those without the illness. The discovery suggests that several variants of genes commonly found in the population raise the risk of developing the illness, though many people will carry the variants and never acquire it. Prof Chris Ponting, an investigator on the DecodeME study at the University of Edinburgh, called the results 'a wake-up call' that showed a person's genetics could 'tip the balance' on whether they would develop ME/CFS. 'These provide the first robust evidence for genetic contributions to ME,' Ponting said. 'There are many genetic variants that apply across the genome that predispose people to be diagnosed with ME.' More research is needed to develop diagnostic tests or screenings to identify people at high risk of ME/CFS. But scientists called the work a milestone that put the illness on an equal footing with other debilitating diseases and opened potential avenues for treatments. 'This really adds validity and credibility for people with ME,' said Sonya Chowdhury, chief executive of Action for ME and a DecodeME co-investigator. 'We know that many people have experienced comments like 'ME is not real'. They've been to doctors and they've been disbelieved or told that it's not a real illness.' Despite its long history, scientists understand very little about the causes of ME/CFS, though most patients report an infection before symptoms first appear. Typical symptoms include extreme tiredness, sleep problems, brain fog and a worsening of symptoms after physical or mental activities, known as post-exertional malaise, which can take weeks to recover from. It is estimated that 67 million people are affected by ME/CFS at an annual cost to the global economy of tens of billions of pounds. In the UK, the annual economic toll is calculated at more than £3bn. There is no test or cure for the illness. The DecodeME study, a collaboration between Edinburgh University, ME charities and patients, was launched in 2022 to explore whether genes play a role in who develops ME/CFS. For the latest work, researchers analysed 15,579 DNA samples from 27,000 people with ME/CFS and more than 250,000 people without the illness. The eight genetic regions that stood out in people with ME/CFS contain genes involved in immune defences and the nervous system. It will take more work to unpick the biology, but some gene variants may make people more vulnerable to ME/CFS by compromising their ability to fight bacterial and viral infections. Another genetic difference seen in ME/CFS is known from people with chronic pain, a symptom that many with ME/CFS also experience. 'Overall, what is happening here is the genetics align with how people with ME have described their illness,' Ponting said. Andy Devereux-Cooke, a DecodeMe co-investigator, said the findings would be huge for patients. 'The vast majority of the patient population essentially has been abandoned in one way or another, by families, the government, the medical system,' he said. 'This will be huge for the patient population. Even though it does not provide all the answers [and] it does not provide practical assistance, it is a welcome drop in the ocean towards turning the tide.' Among the many questions that remain is why ME/CFS affects far more women than men. Diagnoses are four times more common in women, but the study found no genetic explanation. Another question is whether long Covid overlaps with ME/CFS. While many symptoms are similar, the researchers found no genetic link between the two. 'One of the key things we're doing is enabling others to use their different approaches to ask and answer the same question,' said Ponting. Prof Anne McArdle, who studies ME/CFS at the University of Liverpool, said the results, which have not yet been published in a peer-reviewed journal, provided 'a solid basis' for future work that would hopefully help accelerate the development of a treatment for the devastating illness. Dr Beata Godlewska, who studies ME/CFS at the University of Oxford, recently used magnetic resonance spectroscopy to scan the brains of people with ME/CFS and long Covid. Those with ME/CFS but not long Covid had high levels of lactate in the anterior cingulate cortex, a brain region that integrates information about effort and emotion. This points to disrupted energy metabolism in the brain, and impaired mitochondria, the battery-like structures that provide energy inside cells. Godlewska said 'It's a very sad fact that people with ME/CFS are still disbelieved and the disease has been so neglected, especially when it comes to research funding. Hopefully this study will come with a benefit of both fighting the stigma, and convincing research funders that this is a truly biological condition.'
Glasgow Times
4 days ago
- Health
- Glasgow Times
People with ME have key genetic differences to other people, study finds
Scientists said the findings offer the first robust evidence that genes contribute to a person's chance of developing the disease. The DecodeME study, said to be the largest of its kind in the world, uncovered eight areas of genetic code in people with ME/CFS (myalgic encephalomyelitis/chronic fatigue syndrome) that are markedly different to the DNA of people without the condition. Researchers hope the findings will boost 'validity and credibility' for patients, and help rebuff some of the stigma and lack of belief that exists around the condition. There is currently no diagnostic test or cure for ME/CFS, which is believed to affect around 67 million people worldwide, and very little is known about what causes it. A key feature of the condition is a disproportionate worsening of symptoms following even minor physical or mental activity, which is known as post-exertional malaise (PEM,) while other symptoms include pain, brain fog and extreme energy limitations that do not improve with rest. For the new study, researchers analysed 15,579 DNA samples from the 27,000 people with ME/CFS participating in DecodeME, described as the world's largest data set of people with the disease. The eight regions of DNA where scientists found genetic differences involve genes linked to the immune and nervous systems. At least two of the genetic signals relate to how the body responds to infection, which researchers said aligns with long-standing patient reports that the onset of symptoms often followed an infectious illness. Professor Chris Ponting, DecodeME investigator from the University of Edinburgh, said: 'This is a wake-up call. These extraordinary DNA results speak the language of ME/CFS, often recounting people's ME/CFS symptoms. 'DecodeME's eight genetic signals reveal much about why infection triggers ME/CFS and why pain is a common symptom. 'ME/CFS is a serious illness and we now know that someone's genetics can tip the balance on whether they are diagnosed with it.' As a person's DNA does not change over time, experts say the genetic signals identified would not have developed because of ME/CFS and are therefore likely to reflect the causes of the disease. Populations used in the initial study were limited to those from European ancestries. DecodeME research studying DNA data from all ancestries is ongoing. ME/CFS, thought to affect around 404,000 people in the UK, affects more females than males, although researchers found nothing to explain why this is the case. The DecodeME team is now calling on researchers from around the world to access its 'rich' dataset and help drive forward targeted studies into ME/CFS. Sonya Chowdhury, chief executive of Action for ME and a DecodeME co-investigator, said: 'These results are groundbreaking. 'With DecodeME, we have gone from knowing next to nothing about the causes of ME/CFS, to giving researchers clear targets.' She also hopes the discoveries will help change the way the condition is viewed. Ms Chowdhury said: 'This really adds validity and credibility for people with ME. 'We know that many people have experienced comments like ME is not real, or they've been to doctors and been disbelieved or told that it's not a real illness. 'Whilst things have changed and continue to change, that is still the case for some people and we hear that repeatedly as a charity. Researchers at the University of Edinburgh are involved in the study (Jane Barlow/PA) 'Being able to take this study into the treatment room and say there are genetic causes that play a part in ME is going to be really significant for individuals. 'It will rebuff that lack of belief and the stigma that exists.' The findings have been reported in a pre-print publication, or unpublished study. During a media briefing about the study, researchers were asked about similarities between the symptoms of long Covid and ME/CFS. Prof Ponting said: 'It's very clear that the symptomology between long Covid and ME is highly similar. 'Not for everyone but there are substantial similarities but as a geneticist the key question for me is are there overlapping genetic factors, and we haven't found that in DECode ME with the methods that we've employed. 'One of the key things that we're doing is enabling others to use their different approaches to ask and answer the same question.' DecodeME is a collaboration between the University of Edinburgh, the charity Action for ME, the Forward ME alliance of charities, and people with ME/CFS. It is funded by the Medical Research Council and National Institute for Health and Care Research.
STV News
4 days ago
- Health
- STV News
People with ME have key genetic differences to other people, study finds
People diagnosed with ME/chronic fatigue syndrome (CFS) have significant differences in their DNA compared to those without the condition, according to a 'groundbreaking' new study. Scientists said the findings offer the first robust evidence that genes contribute to a person's chance of developing the disease. The DecodeME study, said to be the largest of its kind in the world, uncovered eight areas of genetic code in people with ME/CFS (myalgic encephalomyelitis/chronic fatigue syndrome) that are markedly different to the DNA of people without the condition. Researchers hope the findings will boost 'validity and credibility' for patients, and help rebuff some of the stigma and lack of belief that exists around the condition. There is currently no diagnostic test or cure for ME/CFS, which is believed to affect around 67 million people worldwide, and very little is known about what causes it. A key feature of the condition is a disproportionate worsening of symptoms following even minor physical or mental activity, which is known as post-exertional malaise (PEM,) while other symptoms include pain, brain fog and extreme energy limitations that do not improve with rest. For the new study, researchers analysed 15,579 DNA samples from the 27,000 people with ME/CFS participating in DecodeME, described as the world's largest data set of people with the disease. The eight regions of DNA where scientists found genetic differences involve genes linked to the immune and nervous systems. At least two of the genetic signals relate to how the body responds to infection, which researchers said aligns with long-standing patient reports that the onset of symptoms often followed an infectious illness. Professor Chris Ponting, DecodeME investigator from the University of Edinburgh, said: 'This is a wake-up call. These extraordinary DNA results speak the language of ME/CFS, often recounting people's ME/CFS symptoms. 'DecodeME's eight genetic signals reveal much about why infection triggers ME/CFS and why pain is a common symptom. 'ME/CFS is a serious illness and we now know that someone's genetics can tip the balance on whether they are diagnosed with it.' As a person's DNA does not change over time, experts say the genetic signals identified would not have developed because of ME/CFS and are therefore likely to reflect the causes of the disease. Populations used in the initial study were limited to those from European ancestries. DecodeME research studying DNA data from all ancestries is ongoing. ME/CFS, thought to affect around 404,000 people in the UK, affects more females than males, although researchers found nothing to explain why this is the case. The DecodeME team is now calling on researchers from around the world to access its 'rich' dataset and help drive forward targeted studies into ME/CFS. Sonya Chowdhury, chief executive of Action for ME and a DecodeME co-investigator, said: 'These results are groundbreaking. PA Media Researchers at the University of Edinburgh are involved in the study. 'With DecodeME, we have gone from knowing next to nothing about the causes of ME/CFS, to giving researchers clear targets.' She also hopes the discoveries will help change the way the condition is viewed. Ms Chowdhury said: 'This really adds validity and credibility for people with ME. 'We know that many people have experienced comments like ME is not real, or they've been to doctors and been disbelieved or told that it's not a real illness. 'Whilst things have changed and continue to change, that is still the case for some people and we hear that repeatedly as a charity. 'Being able to take this study into the treatment room and say there are genetic causes that play a part in ME is going to be really significant for individuals. 'It will rebuff that lack of belief and the stigma that exists.' The findings have been reported in a pre-print publication, or unpublished study. During a media briefing about the study, researchers were asked about similarities between the symptoms of long Covid and ME/CFS. Prof Ponting said: 'It's very clear that the symptomology between long Covid and ME is highly similar. 'Not for everyone but there are substantial similarities but as a geneticist the key question for me is are there overlapping genetic factors, and we haven't found that in DECode ME with the methods that we've employed. 'One of the key things that we're doing is enabling others to use their different approaches to ask and answer the same question.' DecodeME is a collaboration between the University of Edinburgh, the charity Action for ME, the Forward ME alliance of charities, and people with ME/CFS. It is funded by the Medical Research Council and National Institute for Health and Care Research. Get all the latest news from around the country Follow STV News Scan the QR code on your mobile device for all the latest news from around the country
