̽��ֱ�� of Cambridge - School of Clinical Medicine

Problematic smartphone use linked to poorer grades, alcohol misuse and more sexual partners

cjb250 — Thu, 04 Jul 2019 16:09:42 +0000

Smartphones offer the potential of instant, round-the-clock access for making phone calls, playing games, gambling, chatting with friends, using messenger systems, accessing web services (e.g. websites, social networks and pornography), and searching for information. ̽��ֱ��number of users is rapidly increasing, with some estimates suggesting that there are now more than 2.7 billion users worldwide.

While most people using smartphones find them a helpful and positive part of life, a minority of users develop excessive smartphone use, meaning that smartphone use has significant negative effects on how people function in life. Previous research has linked excessive smartphone use to mental health issues such as anxiety, depression, post-traumatic stress disorder (PTSD), attention deficit hyperactivity disorder (ADHD) and problems with self-esteem.

A collaborative team of researchers from the ̽��ֱ�� of Chicago, ̽��ֱ�� of Cambridge, and the ̽��ֱ�� of Minnesota, developed the Health and Addictive Behaviours Survey to assess mental health and well-being in a large sample of university students. They used the survey to investigate the impact of smartphone use on university students. Just over a third (3,425) of students invited to take the test responded. ̽��ֱ��results are published today in the Journal of Behavioral Addictions.

̽��ֱ��self-report survey consisted of 156 questions. Based on their responses, the students were given a score ranging from 10 to 60, with a score of 32 and above being defined as problematic smartphone use. This definition was based on a threshold recommended previously in clinical validation studies using the scale. Typical characteristics of problematic use include: excessive use; trouble concentrating in class or at work due to smartphone use; feeling fretful or impatient without their smartphone; missing work due to smartphone use; and experiencing physical consequences of excessive use, such as light-headedness or blurred vision.

̽��ֱ��researchers found that one in five (20%) of respondents reported problematic smartphone use.

Problematic smartphone use was greater among female rather than male students – 64% of problem users were female. Importantly, the researchers found a link between problematic smartphone use and lower grade point averages (academic achievement).

“Although the effect of problematic smartphone use on grade point averages was relatively small, it’s worth noting that even a small negative impact could have a profound effect on an individual’s academic achievement and then on their employment opportunities in later life,” said Professor Jon Grant from the Department of Psychiatry & Behavioral Neuroscience at the ̽��ֱ�� of Chicago.

While students reporting problematic smartphone use tended be less sexually active than their peers (70.9% compared to 74%), the proportion of students reporting two or more sexual partners in the past 12 months was significantly higher among problem users: 37.4% of sexually-active problematic smartphone users compared with 27.2% sexually-active students who reported no problem use. ̽��ֱ��proportion with six or more sexual partners was more than double among sexually-active problematic smartphone users (6.8% compared to 3.0%).

“Smartphones can help connect people and help people feel less isolated, and our findings suggest that they may act as an avenue for sexual contact, whether through sustained partnerships or more casual sex,” added Dr Sam Chamberlain, Wellcome Trust Clinical Fellow and Honorary Consultant Psychiatrist from the Department of Psychiatry at the ̽��ֱ�� of Cambridge and the Cambridge & Peterborough NHS Foundation Trust.

̽��ֱ��researchers found that alcohol misuse was significantly higher in those with problematic smartphone use compared to the control group. To assess this, the team used a scale known as the Alcohol Use Disorders Identification Test: a score of eight or above indicates harmful alcohol use. 33.3% of problematic smartphone users scored eight or above compared to 22.5% of other smartphone users. ̽��ֱ��researchers found no significant link with any other form of substance abuse or addiction.

In terms of other mental health problems, the researchers found that problematic smartphone use was significantly associated with lower self-esteem, ADHD, depression, anxiety, and PTSD, mirroring similar findings elsewhere.

“It’s easy to think of problematic smartphone use as an addiction, but if it was that simple, we would expect it to be associated with a wide range of substance misuse problems, especially in such a large sample, but this does not seem to be the case,” added Dr Sam Chamberlain.

“One possible explanation for these results is that people develop excessive smartphone use because of other mental health difficulties. For example, people who are socially isolated, those who experience depression or anxiety, or those who have attention problems (as in ADHD) may be more prone to excessive smartphone use, as well as to using alcohol. Smartphone use likely develops earlier in life – on average – than alcohol use problems and so it is unlikely that alcohol use itself leads to smartphone use.”

While the sample size for this study was relative large, suggesting that the findings should be fairly robust, the researchers point out that as a cross-sectional study (one that takes a ‘snapshot’ at one particular time, rather than following people over a longer period), and so direction of causality cannot be established. In other words, the study cannot say that problematic smartphone use leads to mental health issues or vice versa.

̽��ֱ��researchers point out the effect sizes were also generally small, and that more research is needed into positive and negative effects of smartphone use and mental health, including how this changes over time.

Reference
Problematic Smart Phone Use is Associated with Greater Alcohol Consumption, Mental Health Issues, Poorer Academic Performance, and Impulsivity. Journal of Behavioral Addictions; Date; DOI: 10.1556/2006.8.2019.32

A survey of more than 3,400 university students in the USA has found that one in five respondents reported problematic smartphone use. Female students were more likely be affected and problematic smartphone use was associated with lower grade averages, mental health problems and higher numbers of sexual partners.

It’s easy to think of problematic smartphone use as an addiction, but if it was that simple, we would expect it to be associated with a wide range of substance misuse problems

Sam Chamberlain

Free Photos

Smartphone

̽��ֱ��text in this work is licensed under a Creative Commons Attribution 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 – as here, 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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Adolescents who sleep longer perform better at cognitive tasks

cjb250 — Tue, 22 Apr 2025 15:00:23 +0000

But the study of adolescents in the US also showed that even those with better sleeping habits were not reaching the amount of sleep recommended for their age group.

Sleep plays an important role in helping our bodies function. It is thought that while we are asleep, toxins that have built up in our brains are cleared out, and brain connections are consolidated and pruned, enhancing memory, learning, and problem-solving skills. Sleep has also been shown to boost our immune systems and improve our mental health.

During adolescence, our sleep patterns change. We tend to start going to bed later and sleeping less, which affects our body clocks. All of this coincides with a period of important development in our brain function and cognitive development. ̽��ֱ��American Academy of Sleep Medicine says that the ideal amount of sleep during this period is between eight- and 10-hours’ sleep.

Professor Barbara Sahakian from the Department of Psychiatry at the ̽��ֱ�� of Cambridge said: “Regularly getting a good night’s sleep is important in helping us function properly, but while we know a lot about sleep in adulthood and later life, we know surprisingly little about sleep in adolescence, even though this is a crucial time in our development. How long do young people sleep for, for example, and what impact does this have on their brain function and cognitive performance?”

Studies looking at how much sleep adolescents get usually rely on self-reporting, which can be inaccurate. To get around this, a team led by researchers at Fudan ̽��ֱ��, Shanghai, and the ̽��ֱ�� of Cambridge turned to data from the Adolescent Brain Cognitive Development (ABCD) Study, the largest long-term study of brain development and child health in the United States.

As part of the ABCD Study, more than 3,200 adolescents aged 11-12 years old had been given FitBits, allowing the researchers to look at objective data on their sleep patterns and to compare it against brain scans and results from cognitive tests. ̽��ֱ��team double-checked their results against two additional groups of 13-14 years old, totalling around 1,190 participants. ̽��ֱ��results are published today in Cell Reports.

̽��ֱ��team found that the adolescents could be divided broadly into one of three groups:

Group One, accounting for around 39% of participants, slept an average (mean) of 7 hours 10 mins. They tended to go to bed and fall asleep the latest and wake up the earliest.

Group Two, accounting for 24% of participants, slept an average of 7 hours 21 mins. They had average levels across all sleep characteristics.

Group Three, accounting for 37% of participants, slept an average of 7 hours 25 mins. They tended to go to bed and fall asleep the earliest and had lower heart rates during sleep.

Although the researchers found no significant differences in school achievement between the groups, when it came to cognitive tests looking at aspects such as vocabulary, reading, problem solving and focus, Group Three performed better than Group Two, which in turn performed better than Group One.

Group Three also had the largest brain volume and best brain functions, with Group One the smallest volume and poorest brain functions.

Professor Sahakian said: “Even though the differences in the amount of sleep that each group got was relatively small, at just over a quarter-of-an-hour between the best and worst sleepers, we could still see differences in brain structure and activity and in how well they did at tasks. This drives home to us just how important it is to have a good night’s sleep at this important time in life.”

First author Dr Qing Ma from Fudan ̽��ֱ�� said: “Although our study can’t answer conclusively whether young people have better brain function and perform better at tests because they sleep better, there are a number of studies that would support this idea. For example, research has shown the benefits of sleep on memory, especially on memory consolidation, which is important for learning.”

̽��ֱ��researchers also assessed the participants’ heart rates, finding that Group Three had the lowest heart rates across the sleep states and Group One the highest. Lower heart rates are usually a sign of better health, whereas higher rates often accompany poor sleep quality like restless sleep, frequent awakenings and excessive daytime sleepiness.

Because the ABCD Study is a longitudinal study – that is, one that follows its participants over time – the team was able to show that the differences in sleep patterns, brain structure and function, and cognitive performance, tended be present two years before and two years after the snapshot that they looked at.

Senior author Dr Wei Cheng from Fudan ̽��ֱ�� added: “Given the importance of sleep, we now need to look at why some children go to bed later and sleep less than others. Is it because of playing videogames or smartphones, for example, or is it just that their body clocks do not tell them it’s time to sleep until later?”

̽��ֱ��research was supported by the National Key R&D Program of China, National Natural Science Foundation of China, National Postdoctoral Foundation of China and Shanghai Postdoctoral Excellence Program. ̽��ֱ��ABCD Study is supported by the National Institutes of Health.

Reference

Ma, Q et al. Neural correlates of device-based sleep characteristics in adolescents. Cell Reports; 22 Apr 2025; DOI: 10.1016/j.celrep.2025.115565

Adolescents who sleep for longer – and from an earlier bedtime – than their peers tend to have improved brain function and perform better at cognitive tests, researchers from the UK and China have shown.

Even though the differences in the amount of sleep that each group got was relatively small, we could still see differences in brain structure and activity and in how well they did at tasks

Barbara Sahakian

harpazo_hope (Getty Images)

Teenager asleep and wrapped in a blanket

̽��ֱ��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.

Yes

Throwing a ‘spanner in the works’ of our cells’ machinery could help fight cancer, fatty liver disease… and hair loss

cjb250 — Fri, 18 Apr 2025 18:00:53 +0000

Scientists at the Medical Research Council (MRC) Mitochondrial Biology Unit, ̽��ֱ�� of Cambridge, have worked out the structure of this machine and shown how it operates like the lock on a canal to transport pyruvate – a molecule generated in the body from the breakdown of sugars – into our mitochondria.

Known as the mitochondrial pyruvate carrier, this molecular machine was first proposed to exist in 1971, but it has taken until now for scientists to visualise its structure at the atomic scale using cryo-electron microscopy, a technique used to magnify an image of an object to around 165,000 times its real size. Details are published today in Science Advances.

Dr Sotiria Tavoulari, a Senior Research Associate from the ̽��ֱ�� of Cambridge, who first determined the composition of this molecular machine, said: “Sugars in our diet provide energy for our bodies to function. When they are broken down inside our cells they produce pyruvate, but to get the most out of this molecule it needs to be transferred inside the cell’s powerhouses, the mitochondria. There, it helps increase 15-fold the energy produced in the form of the cellular fuel ATP.”

Maximilian Sichrovsky, a PhD student at Hughes Hall and joint first author of the study, said: “Getting pyruvate into our mitochondria sounds straightforward, but until now we haven’t been able to understand the mechanism of how this process occurs. Using state-of-the-art cryo-electron microscopy, we’ve been able to show not only what this transporter looks like, but exactly how it works. It’s an extremely important process, and understanding it could lead to new treatments for a range of different conditions.”

Mitochondria are surrounded by two membranes. ̽��ֱ��outer one is porous, and pyruvate can easily pass through, but the inner membrane is impermeable to pyruvate. To transport pyruvate into the mitochondrion, first an outer ‘gate’ of the carrier opens, allowing pyruvate to enter the carrier. This gate then closes, and the inner gate opens, allowing the molecule to pass through into the mitochondrion.

“It works like the locks on a canal but on the molecular scale,” said Professor Edmund Kunji from the MRC Mitochondrial Biology Unit, and a Fellow at Trinity Hall, Cambridge. “There, a gate opens at one end, allowing the boat to enter. It then closes and the gate at the opposite end opens to allow the boat smooth transit through.”

Because of its central role in controlling the way mitochondria operate to produce energy, this carrier is now recognised as a promising drug target for a range of conditions, including diabetes, fatty liver disease, Parkinson’s disease, specific cancers, and even hair loss.

Pyruvate is not the only energy source available to us. Our cells can also take their energy from fats stored in the body or from amino acids in proteins. Blocking the pyruvate carrier would force the body to look elsewhere for its fuel – creating opportunities to treat a number of diseases. In fatty liver disease, for example, blocking access to pyruvate entry into mitochondria could encourage the body to use potentially dangerous fat that has been stored in liver cells.

Likewise, there are certain tumour cells that rely on pyruvate metabolism, such as in some types of prostate cancer. These cancers tend to be very ‘hungry’, producing excess pyruvate transport carriers to ensure they can feed more. Blocking the carrier could then starve these cancer cells of the energy they need to survive, killing them.

Previous studies have also suggested that inhibiting the mitochondrial pyruvate carrier may reverse hair loss. Activation of human follicle cells, which are responsible for hair growth, relies on metabolism and, in particular, the generation of lactate. When the mitochondrial pyruvate carrier is blocked from entering the mitochondria in these cells, it is instead converted to lactate.

Professor Kunji said: “Drugs inhibiting the function of the carrier can remodel how mitochondria work, which can be beneficial in certain conditions. Electron microscopy allows us to visualise exactly how these drugs bind inside the carrier to jam it – a spanner in the works, you could say. This creates new opportunities for structure-based drug design in order to develop better, more targeted drugs. This will be a real game changer.”

̽��ֱ��research was supported by the Medical Research Council and was a collaboration with the groups of Professors Vanessa Leone at the Medical College of Wisconsin, Lucy Forrest at the National Institutes of Health, and Jan Steyaert at the Free ̽��ֱ�� of Brussels.

Reference

Sichrovsky, M, Lacabanne, D, Ruprecht, JJ & Rana, JJ et al. Molecular basis of pyruvate transport and inhibition of the human mitochondrial pyruvate carrier. Sci Adv; 18 Apr 2025; DOI: 10.1126/sciadv.adw1489

Fifty years since its discovery, scientists have finally worked out how a molecular machine found in mitochondria, the ‘powerhouses’ of our cells, allows us to make the fuel we need from sugars, a process vital to all life on Earth.

Drugs inhibiting the function of the carrier can remodel how mitochondria work, which can be beneficial in certain conditions

Edmund Kunji

bob_bosewell (Getty Images)

Bald young man, front view

Yes

Mouse study suggests a common diabetes drug may prevent leukaemia

cjb250 — Wed, 16 Apr 2025 07:59:00 +0000

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 ̽��ֱ�� of Cambridge investigated how to prevent abnormal blood stem cells with genetic changes from progressing to become AML. ̽��ֱ��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 ̽��ֱ�� of Cambridge and Honorary Consultant Haematologist at Cambridge ̽��ֱ�� 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.”

̽��ֱ��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. ̽��ֱ��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 ̽��ֱ�� 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.”

̽��ֱ��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.”

̽��ֱ��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 trials

Brian Huntly

̽��ֱ�� of Cambridge

Brown lab mouse on blue gloved hand

Yes

Scientists create 'metal detector' to hunt down tumours

cjb250 — Thu, 10 Apr 2025 09:00:56 +0000

In a paper published today in Nature Genetics, scientists at the ̽��ֱ�� 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.

̽��ֱ��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.

̽��ֱ��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 ̽��ֱ�� 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.”

̽��ֱ��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. ̽��ֱ��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.

̽��ֱ��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.

̽��ֱ��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. ̽��ֱ��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.

“ ̽��ֱ��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.”

̽��ֱ�� ̽��ֱ�� of Cambridge is fundraising for a new hospital that will transform how we diagnose and treat cancer. Cambridge Cancer Research Hospital, a partnership with Cambridge ̽��ֱ�� Hospitals NHS Foundation Trust, will treat patients across the East of England, but the research that takes place there promises to change the lives of cancer patients across the UK and beyond. Find out more here.

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 test

Professor Serena Nik-Zainal

̽��ֱ�� of Cambridge

Serena Nik-Zainal at the Early Cancer Institute

Yes

Licence type:

Attribution

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

cjb250 — Mon, 07 Apr 2025 23:01:05 +0000

̽��ֱ��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 ̽��ֱ�� 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 ̽��ֱ�� of Cambridge and an honorary consultant at Cambridge ̽��ֱ�� 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 ̽��ֱ�� Hospital and ̽��ֱ�� of Glasgow. ̽��ֱ��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.

“ ̽��ֱ��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. “ ̽��ֱ��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.”

̽��ֱ��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.”

̽��ֱ��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: " ̽��ֱ��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 cancer

Stefan Marciniak

wildpixel (Getty Images)

Chest pain

Yes

Opinion: AI can transform health and medicine

cjb250 — Mon, 07 Apr 2025 08:00:37 +0000

AI has the potential to transform health and medicine. It won't be straightforward, but if we get it right, the benefits could be enormous. Andres Floto, Mihaela van der Schaar and Eoin McKinney explain.

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.