News

The new Fellows have been recognised for their remarkable contributions to advancing medical science, groundbreaking research discoveries and translating developments into benefits for patients and the wider public. Their work exemplifies the Academy’s mission to create an open and progressive research sector that improves health for everyone.

They join an esteemed Fellowship of 1,450 researchers who are at the heart of the Academy’s work, which includes nurturing the next generation of scientists and shaping research and health policy in the UK and worldwide.

One of Cambridge’s new Fellows, Professor Sam Behjati, is a former recipient of the Academy’s prestigious Foulkes Foundation medal, which recognises rising stars within biomedical research. Sam is Clinical Professor of Paediatric Oncology at the University and an Honorary Consultant Paediatric Oncologist at Addenbrooke’s Hospital, as well as Group Leader at the Wellcome Sanger Institute. His research is rooted in cancer genomics, phylogenetics, and single cell transcriptomics and spans a wide range of diseases and biological problems. More recently, his work has focused on the origin of cancers, in particular of childhood cancer. In addition, he explores how to use genomic data to improve the treatment of children. Sam is a Fellow at Corpus Christi College, Cambridge.

Also elected to the Academy of Medical Sciences Fellowship are:

Professor Clare Bryant, Departments of Medicine and Veterinary Medicine

Clare Bryant is Professor of Innate Immunity. She studies innate immune cell signalling during bacterial infection to answer fundamental questions about host-pathogen interactions and to search for new drugs to modify them. She also applies these approaches to study inflammatory signalling in chronic diseases of humans and animals.  Clare has extensive collaborations with many pharmaceutical companies, is on the scientific advisory board of several biotech companies, and helped found the natural product company Polypharmakos. Clare is a Fellow of Queens’ College, Cambridge.

Professor Frank Reimann, Institute of Metabolic Science-Metabolic Research Laboratories

Frank Reimann is Professor of Endocrine Signaling. The main focus of his group, run in close partnership with Fiona Gribble, is the enteroendocrine system within the gut, which helps regulate digestion, metabolism, and how full we feel. Their work has included the use of animal models and human cellular models to understand how cells function. One of these cells, glucagon-like peptide-1 (GLP-1) is the target of therapies now widely used in the treatment of diabetes mellitus and obesity. How cells shape feeding behaviour has become a major focus of the lab in recent years.

Professor Mina Ryten, UK Dementia Research Institute

Mina Ryten is a clinical geneticist and neuroscientist, and Director of the UK Dementia Research Institute at Cambridge since January 2024. She also holds the Van Geest Professorship and leads a lab focused on understanding molecular mechanisms driving neurodegeneration. Mina’s research looks at how genetic variation influences neurological diseases, particularly Lewy body disorders. Her work has advanced the use of single cell and long-read RNA sequencing to map disease pathways and identify potential targets for new treatments. Her expertise in clinical care and functional genomics has enabled her to bridge the gap between patient experience and scientific discovery.

Professor Andrew Morris CBE FRSE PMedSci, President of the Academy of Medical Sciences, said: “The breadth of disciplines represented in this year’s cohort – from mental health and infectious disease to cancer biology and respiratory medicine – reflects the rich diversity of medical science today. Their election comes at a crucial time when scientific excellence and collaboration across disciplines are essential for addressing global health challenges both now and in the future. We look forward to working with them to advance biomedical research and create an environment where the best science can flourish for the benefit of people everywhere.”

The new Fellows will be formally admitted to the Academy at a ceremony on Wednesday 9 July 2025.

Four Cambridge biomedical and health researchers are among those announced today as newly-elected Fellows of the Academy of Medical Sciences.

Big T Images for Academy of Medical SciencesAcademy of Medical Sciences plaque

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Yes

Around 10% of women have very dense breasts. Between the ages of 50 and 70, these women are up to four-times more likely to develop breast cancer compared to women with low breast density.

Over 2.2 million women receive breast screening in the UK each year. For women with very dense breasts, mammograms (breast X-rays), which are used for breast screening, can be less effective at detecting cancer. This is because denser breasts look whiter on mammograms, which makes it harder to spot small early-stage cancers which also appear white.

Published today in The Lancet, a trial of over 9000 women across the UK who have dense breasts and had a negative (no cancer) mammogram result, found 85 cancers.

The trial, called BRAID, tested different scanning methods that could be used in addition to mammograms to detect cancers in dense breasts. Per 1000 women screened, two of the methods detected 17-19 cancers that were not seen in mammograms.

The two methods are known as CEM (contrast enhanced mammography) and AB-MRI (abbreviated magnetic resonance imaging).

The researchers that ran the trial recommend that adding either of these methods to existing breast screening could detect 3,500 more cancers per year in the UK. Estimates suggest that screening reduces mortality for about 20% of cancers detected, so this could mean an extra 700 lives saved each year.

BRAID also included a third scanning method, ABUS (automated whole breast ultrasound), which also detected cancers not seen in mammograms but was three times less effective than CEM and AB-MRI.

Each of the three methods was used to scan around 2000 women. Per 1000 women scanned, CEM detected 19 cancers, AB-MRI found 17 cancers, and ABUS found 4.

Mammograms already detect approximately 8 cancers per 1000 women with dense breasts. This means additional scans could more than treble breast cancer detection in this group of women.

BRAID is the first trial to directly compare supplemental imaging methods and to demonstrate their value for early cancer detection as part of widespread screening. The team hope their results will be used to enhance screening programmes in the UK and globally to diagnose more cancers early.

More work is needed to confirm whether additional scans will reduce the number of deaths as cancers detected through screening are not always life-threatening.

The trial was led from Cambridge. It recruited across 10 UK sites, including over 2000 women at Addenbrooke’s Hospital, Cambridge.

The research was led by Professor Fiona Gilbert, Department of Radiology, University of Cambridge and honorary consultant radiologist at Addenbrooke’s Hospital, part of Cambridge University Hospitals NHS Foundation Trust (CUH). The trial was funded by Cancer Research UK with support from the National Institute for Health and Care Research (NIHR) Cambridge Biomedical Research Centre (BRC).

Professor Gilbert said: “Getting a cancer diagnosis early makes a huge difference for patients in terms of their treatment and outlook. We need to change our national screening programme so we can make sure more cancers are diagnosed early, giving many more women a much better chance of survival.”

Professor Stephen Duffy, Emeritus Professor, Queen Mary University, London, trial statistician and screening programme expert said: “The NHS Breast Screening Programme has made a huge difference to many lives. Thanks to these results we can see that the technology exists to make screening even better, particularly for the 10% of women with dense breast tissue."

Dr David Crosby, head of prevention and early detection at Cancer Research UK, said: “Breast cancer screening is for people without symptoms and helps to spot the disease at an early stage, when treatment is more likely to be successful. But having dense breasts can make it harder to detect cancer.

“This study shows that making blood vessels more visible during mammograms could make it much easier for doctors to spot signs of cancer in women with dense breasts. More research is needed to fully understand the effectiveness of these techniques, but these results are encouraging.

“Remember, having dense breasts is not something you can check for yourself or change, but if you’re concerned at all, you can speak to your GP.”

Reference
Gilbert, FJ et al. Comparison of supplemental imaging techniques – interim results of BRAID (Breast Screening: risk adapted imaging for density) randomized controlled trial. Lancet; 22 May 2025; DOI: 10.1016/S0140-6736(25)00582-3 

Press release from Cambridge University Hospitals NHS Foundation Trust

Researchers in Cambridge are calling for additional scans to be added to breast screening for women with very dense breasts. This follows a large-scale trial, which shows that extra scans could treble cancer detection for these women potentially saving up to 700 lives a year in the UK.

We need to change our national screening programme so we can make sure more cancers are diagnosed early, giving many more women a much better chance of survivalFiona GilbertTom Werner (Getty Images)Woman undergoing mammogram procedure - stock photoLouise’s story

Louise Duffield, age 60, a grandmother of four from Ely was diagnosed with early-stage breast cancer as a result of the BRAID trial.

Louise works in local government. She spends her free time knitting, and visiting 1940s events around the UK with her husband, Fred, and their two restored wartime Jeep. She is enthusiastic about clinical research and has previously participated as a healthy participant in several studies.

In 2023, Louise was invited to participate in the BRAID trial following her regular mammogram screening, which showed that she had very dense breasts. As part of the trial, Louise had an AB-MRI scan which identified a small lump deep inside one of her breasts.

“When they rang to say they’d found something, it was a big shock. You start thinking all sorts of things but, in the end, I just thought, at least if they’ve found something, they’ve found it early. The staff were brilliant, and so supportive.”

Soon after the MRI, Louise had a biopsy that confirmed she had stage 0 (very early) breast cancer within the ducts of one of her breasts. Six weeks later Louise underwent surgery to remove the tumour, during that time the tumour had already grown larger than it appeared on the scans.

“It’s been a stressful time and it’s a huge relief to have it gone. The team have been fantastic throughout. The tumour was deep in the breast so, if I hadn’t been on the trial, it could have gone unnoticed for years.

“I feel very lucky, it almost doesn’t feel like I’ve really had cancer. Without this research I could have had a very different experience.”

The location of Louise’s tumour meant it would have been difficult for her to find it through self-examination, and since it was not detected during her regular mammogram it would have been at least three years before she was invited for another.

Following a short course of radiotherapy, Louise is now cancer free. She will continue to be monitored for several years and will continue to be attending her regular mammograms every three years as part of the national breast cancer screening programme.

“This experience has highlighted to me how important screening is. If I hadn’t had the mammogram, I wouldn’t have been invited to the trial. Getting treated was so quick because they found the cancer early.”

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Yes

“It is with great pleasure that I welcome the latest cohort of outstanding researchers into the Fellowship of the Royal Society,” said Sir Adrian Smith, President of the Royal Society. “Their achievements represent the very best of scientific endeavour, from basic discovery to research with real-world impact across health, technology and policy. From tackling global health challenges to reimagining what AI can do for humanity, their work is a testament to the power of curiosity-driven research and innovation.

“The strength of the Fellowship lies not only in individual excellence, but in the diversity of backgrounds, perspectives and experiences each new member brings. This cohort represents the truly global nature of modern science and the importance of collaboration in driving scientific breakthroughs.”

The Fellows and Foreign Members join the ranks of Stephen Hawking, Isaac Newton, Charles Darwin, Albert Einstein, Lise Meitner, Subrahmanyan Chandrasekhar and Dorothy Hodgkin.

The new Cambridge fellows are:

Professor Edward Bullmore FMedSci FRS

Professor Ed Bullmore is Professor of Psychiatry and former Head of the Department of Psychiatry. His research mainly involves the application of brain imaging to psychiatry. He has introduced an entirely original approach to the analysis of human brain anatomy, involving graph theory and its application to small-world networks. This has had an enormous impact on the field, especially in relation to understanding the biological basis of schizophrenia and depression. His work has been key to the understanding of the 'wiring' of the human brain.

Professor Gábor Csányi FRS

Professor Gábor Csányi is Professor of Molecular Modelling in the Department of Engineering, and a Fellow of Pembroke College. His work is in the field of computational chemistry, and is focused on developing algorithms to predict the properties of materials and molecules from first principles. He pioneered the application of machine learning to molecular modelling which lead to enormous gains in the efficiency of molecular dynamics simulation.

Professor Judith Driscoll FRS

Professor Judith Driscoll is Professor of Materials Science in the Department of Materials Science and Metallurgy, and a Fellow of Trinity College. Her research is concerned with the nanoscale design and tuning of functional oxide thin film materials for energy-efficient electronic applications. A particular focus of her research group is oxide thin films, owing to their wide range of functionalities and their stability. However, their compositions tend to be complex, defects are prevalent, and interface effects play a strong role. Also, for many applications device structural dimensions are required down to nanometre length-scales. Together, all these factors produce exciting challenges for the materials scientist.

Professor Marie Edmonds FRS

Professor Marie Edmonds is Head of Department and Professor of Volcanology and Petrology in the Department of Earth Sciences. She is also a Fellow of Queens’ College. Her research focuses on understanding the impact of volcanoes on our environment and on the habitability of our planet. Her research spans the boundaries between traditional disciplines, from deciphering the nature of the interior of the Earth, to magma transport and storage in the crust, to volcano monitoring, understanding ore deposits and the dynamic chemistry of volcanic gases in the atmosphere and climate.

Professor Julian Hibberd FRS

Professor Julian Hibberd is Head of the Department of Plant Sciences and a Fellow of Emmanuel College. His research focuses on guiding optimisation of photosynthesis to improve crop yields. The C4 pathway is a complex form of photosynthesis that evolved around 30 million years ago and is now used by the most productive plants on the planet. Professor Hibberd has provided key insights into the evolution of C4 photosynthesis through analysis of plant physiology, cell specialisation, organelle development, and the control of gene expression.

Dr Gregory Jefferis FRS

Dr Gregory Jefferis is Joint Head of the Neurobiology Division at the MRC Laboratory of Molecular Biology and Director of Research of the Department of Zoology. The broad goal of his research is to understand how smell turns into behaviour in the fruit fly brain. His group is particularly interested in how odour information is processed by the higher olfactory centres that mediate innate and learned behaviour.

Professor Jason Miller FRS

Professor Jason Miller is a Professor in the Department of Pure Mathematics and Mathematical Statistics and a Fellow of Trinity College. His research interests are in probability, in particular stochastic interface models, random walk, mixing times for Markov chains, and interacting particle systems.

Professor Andrew Pitts FRS

Professor Andrew Pitts is Emeritus Professor of Theoretical Computer Science in the Department of Computer Science and Technology and an Emeritus Fellow of Darwin College. His research makes use of techniques from category theory, mathematical logic and type theory to advance the foundations of programming language semantics and theorem proving systems. His aim is to develop mathematical models and methods that aid language design and the development of formal logics for specifying and reasoning about programs. He is particularly interested in higher-order typed programming languages and in dependently typed logics.

Dr Marta Zlatic FRS

Dr Marta Zlatic is Programme Leader at the MRC Laboratory of Molecular Biology, and Director of Research in the Department of Zoology. She is also a Fellow of Trinity College. Her research aims to understand the relationship between the structure of the nervous system and its function and to discover the basic principles by which neural circuits implement fundamental computations. A major focus of her research is the circuit implementation of learning and decision-making.

Nine outstanding Cambridge scientists have been elected as Fellows of the Royal Society, the UK’s national academy of sciences and the oldest science academy in continuous existence.

Tom MorrisEntrance to the Royal Society

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YesLicence type: Attribution-ShareAlike

A combination of two drugs could improve outcomes and reduce the need for toxic chemotherapy for B-cell acute lymphoblastic leukaemia (B-ALL), the commonest cancer in childhood and one that can be particularly difficult to treat in older patients, according to Cambridge scientists.

In a trial where cancers were treated with chemotherapy followed by a targeted cancer drug before surgery, 100% of patients survived the critical three-year period post-surgery.

The discovery, published today in Nature Communications, could become the most effective treatment to date for patients with early-stage breast cancer with inherited BRCA1 and BRCA2 gene mutations.

Breast cancers with faulty copies of the BRCA1 and BRCA2 genes are challenging to treat, and came to public attention when actress Angelina Jolie, a BRCA1 carrier, underwent a preventative double mastectomy in 2013.

Current standard treatment aims to shrink the tumour using chemotherapy and immunotherapy, before removing it through surgery. The first three years after surgery is a critical period, when there is the greatest risk of relapse or death.

The Partner trial took a different approach and demonstrates two innovations: the addition of olaparib and chemotherapy pre-surgery, and the benefits of careful timing of when the treatments are given to patients. Taken as tablets, olaparib is a targeted cancer drug already available on the NHS.

Led by Addenbrooke’s Hospital, part of Cambridge University Hospitals (CUH) NHS Foundation Trust and the University of Cambridge, the trial saw patients recruited from 23 NHS sites across the UK.

Results show that leaving a 48-hour “gap” between chemotherapy and olaparib, leads to better outcomes, possibly because a patient’s bone marrow has time to recover from chemotherapy, while leaving the tumour cells susceptible to the targeted drug.

Of the 39 patients who received chemotherapy followed by olaparib, only one patient relapsed three years after surgery and 100% of patients survived.

In comparison, the survival rate for the control arm was 88% three years after surgery. Of the 45 patients on the control arm who received chemotherapy only, nine patients relapsed, of whom six died.

Jackie Van Bochoven, 59, from South Cambridgeshire, was diagnosed in February 2019 with a small but aggressive tumour. She said: “When I had the diagnosis, I was completely shocked and numb, I thought about my children, and my mum and sister who were diagnosed with breast cancer. I was pretty worried.

“Six years on, I’m well and cancer free. I’m back at work, enjoying life and spending time with my family. When you’ve had cancer, I think you look at life differently and every day is a bonus.”

The findings have the potential to be applied to other cancers caused by faulty copies of BRCA genes, such as some ovarian, prostate and pancreatic cancers.

It may also have cost-saving benefits for the NHS, as patients currently offered olaparib take the drug post-surgery for 12 months, whereas patients on the trial took the tablets pre-surgery for 12 weeks.

Addenbrooke’s consultant and trial lead, Professor Jean Abraham said: “It is rare to have a 100% survival rate in a study like this and for these aggressive types of cancer. We’re incredibly excited about the potential of this new approach, as it’s crucial that we find a way to treat and hopefully cure patients who are diagnosed with BRCA1 and BRCA2 related cancers.”

Professor Abraham, who is also Professor of Precision Breast Cancer Medicine at the University of Cambridge, said trialling the 48-hour gap approach followed a “chance conversation” with Mark O’Connor, chief scientist in Early Oncology R&D at nearby AstraZeneca.

Mark O’Connor added: “The Partner trial highlights the importance of detecting and treating cancer early, and the value of innovative science in informing clinical trial design, in this case using bone marrow stem cells to identify the combination gap schedule. While the findings need to be validated in a larger study, they’re incredibly exciting, and have the potential to transform outcomes for patient populations who have unmet clinical need.”

This type of collaboration between NHS, academia and industry reflects the vision of Cambridge Cancer Research Hospital, a specialist cancer research hospital due to be built on Europe’s leading life sciences campus, the Cambridge Biomedical Campus. It will bring clinical expertise from Addenbrooke’s Hospital with world-class scientists from the University of Cambridge, Cancer Research UK Cambridge Centre, and industry partners together in one location to create new diagnostics and treatments to detect the earliest signs of cancer and deliver personalised, precision medicine.

Chief Executive of Cancer Research UK, Michelle Mitchell, said: “One of the best ways that we can beat cancer sooner is by making more effective use of treatments that are already available to us.

"While this research is still in its infancy, it is an exciting discovery that adding olaparib at a carefully-timed stage of treatment can potentially give patients with this specific type of breast cancer more time with their loved ones.

“Research like this can help find safer and kinder ways to treat certain types of cancer. Further studies in more patients are needed to confirm whether this new technique is safe and effective enough to be used by the NHS."

Professor Abraham and team are now planning the next phase of the research, which will look to replicate the results in a larger study and confirm that the Partner approach offers a less toxic treatment for patients as well as being more cost effective, compared to the current standard of care.

The Partner trial was sponsored by Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge, funded by Cancer Research UK and AstraZeneca, and supported by the NIHR Cambridge Biomedical Research Centre, the Cancer Research UK Cambridge Centre and Addenbrooke’s Charitable Trust (ACT).

Reference

Abraham, JE et al. Neoadjuvant PARP inhibitor scheduling in BRCA1 and BRCA2 related breast cancer: PARTNER, a randomized phase II/III trial. Nat Comms; 13 May 2025; DOI: 10.1038/s41467-025-59151-0

Press release from Cambridge University Hospitals NHS Foundation Trust

A new treatment approach significantly improves survival rates for patients with aggressive, inherited breast cancers, according to Cambridge researchers.

It is rare to have a 100% survival rate in a study like this and for these aggressive types of cancerJean Abraham The new treatment improving survival rates for breast cancer patients. Stillvision/University of CambridgeJean Abraham and Jackie Van Bochoven

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Yes

Women with certain variants of the genes BRCA1 and BRCA2 have a high risk of developing ovarian and breast cancer. These women are recommended to have their ovaries and fallopian tubes removed at a relatively early age – between the ages 35 and 40 years for BRCA1 carriers, and between the ages 40 and 45 for BRCA2 carriers.

Previously, BSO has been shown to lead to an 80% reduction in the risk of developing ovarian cancer among these women, but there is concern that there may be unintended consequences as a result of the body’s main source of oestrogen being removed, which brings on early menopause. This can be especially challenging for BRCA1 and BRCA2 carriers with a history of breast cancer, as they may not typically receive hormone replacement therapy to manage symptoms. The overall impact of BSO in BRCA1 and BRCA2 carriers with a prior history of breast cancer remains uncertain. 

Ordinarily, researchers would assess the benefits and risks associated with BSO through randomised controlled trials, the ‘gold standard’ for testing how well treatments work. However, to do so in women who carry the BRCA1 and BRCA2 variants would be unethical as it would put them at substantially greater risk of developing ovarian cancer.

To work around this problem, a team at the University of Cambridge, in collaboration with the National Disease Registration Service (NDRS) in NHS England, turned to electronic health records and data from NHS genetic testing laboratories collected and curated by NDRS to examine the long-term outcomes of BSO among BRCA1 and BRCA2 PV carriers diagnosed with breast cancer. The results of their study, the first large-scale study of its kind, are published today in The Lancet Oncology.

The team identified a total of 3,400 women carrying one of the BRCA1 and BRCA2 cancer-causing variants (around 1,700 women for each variant). Around 850 of the BRCA1 carriers and 1,000 of the BRCA2 carriers had undergone BSO surgery.

Women who underwent BSO were around half as likely to die from cancer or any other cause over the follow-up period (a median follow-up time of 5.5 years). This reduction was more pronounced in BRCA2 carriers compared to BRCA1 carriers (a 56% reduction compared to 38% respectively). These women were also at around a 40% lower risk of developing a second cancer.

Although the team say it is impossible to say with 100% certainty that BSO causes this reduction in risk, they argue that the evidence points strongly towards this conclusion.

Importantly, the researchers found no link between BSO and increased risk of other long-term outcomes such as heart disease and stroke, or with depression. This is in contrast to previous studies that found evidence in the general population of an association between BSO and increased risk of these conditions.

First author Hend Hassan, a PhD student at the Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, and Wolfson College, Cambridge, said: “We know that removing the ovaries and fallopian tubes dramatically reduces the risk of ovarian cancer, but there’s been a question mark over the potential unintended consequences that might arise from the sudden onset of menopause that this causes.

“Reassuringly, our research has shown that for women with a personal history of breast cancer, this procedure brings clear benefits in terms of survival and a lower risk of other cancers without the adverse side effects such as heart conditions or depression.”

Most women undergoing BSO were white. Black and Asian women were around half as likely to have BSO compared to white women. Women who lived in less deprived areas were more likely to have BSO compared to those in the most-deprived category.

Hassan added: “Given the clear benefits that this procedure provides for at-risk women, it’s concerning that some groups of women are less likely to undergo it. We need to understand why this is and encourage uptake among these women.”

Professor Antonis Antoniou, from the Department of Public Health and Primary Care, the study’s senior author, said: “Our findings will be crucial for counselling women with cancer linked to one of the BRCA1 and BRCA2 variants, allowing them to make informed decisions about whether or not to opt for this operation.”

Professor Antoniou, who is also Director of the Cancer Data-Driven Detection programme, added: “The study also highlights the power of exceptional NHS datasets in driving impactful, clinically relevant research.”

The research was funded by Cancer Research UK, with additional support from the National Institute for Health and Care Research (NIHR) Cambridge Biomedical Research Centre.

The University 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 University 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

Hassan, H et al. Long-term health outcomes of bilateral salpingo-oophorectomy in BRCA1 and BRCA2 pathogenic variant carriers with personal history of breast cancer: a retrospective cohort study using linked electronic health records. Lancet Oncology; 7 May 2025; DOI: 10.1016/S1470-2045(25)00156-1

Women diagnosed with breast cancer who carry particular BRCA1 and BRCA2 genetic variants are offered surgery to remove the ovaries and fallopian tubes as this dramatically reduces their risk of ovarian cancer. Now, Cambridge researchers have shown that this procedure – known as bilateral salpingo-oophorectomy (BSO) – is associated with a substantial reduction in the risk of early death among these women, without any serious side-effects.

Our findings will be crucial for counselling women with cancer linked to one of the BRCA1 and BRCA2 variants, allowing them to make informed decisions about whether or not to opt for this operationAntonis Antonioupixelfit (Getty Images)Doctor and patient making a mammography

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Yes

A team of patients, clinicians, researchers and charity representatives, led by the University of Cambridge and the British Society of Audiology, surveyed over 550 people who are deaf or have hearing loss about their experiences with the NHS – making it the largest study of its kind. Their findings, reported in the journal PLOS One, highlight systemic failures and suggest changes and recommendations for improving deaf-aware communication in the NHS.

“The real power of this study lies in the stories people shared,” said lead author Dr Bhavisha Parmar from Cambridge’s Department of Clinical Neurosciences (Sound Lab) and UCL Ear Institute. “Patients weren’t just rating their experiences – they were telling us how these barriers affect every part of their healthcare journey, and in many cases, why they avoid healthcare altogether.”

The study found that despite being a legal requirement under the Accessible Information Standards, NHS patients have inadequate and inconsistent access to British Sign Language (BSL) interpreters and other accessibility accommodations such as hearing loop systems.

Nearly two-thirds (64.4%) of respondents reported missing at least half of the important information during appointments, and only a third (32%) expressed satisfaction with NHS staff communication skills. Respondents said they had to rely on family members or advocates to communicate with healthcare workers, raising privacy and consent concerns.

The research found that communication barriers extend across the entire patient journey – from booking appointments to receiving results. Simple actions, like calling a patient’s name in a waiting room or giving instructions during a scan, become anxiety-inducing when basic accommodations are lacking. Respondents noted that hearing aids often must be removed for X-rays or MRI scans, leaving them struggling or unable to follow verbal instructions.

“We heard over and over that patients fear missing their name being called, or avoid making appointments altogether,” said Parmar. “These aren’t isolated experiences – this is a systemic issue.”

The idea for the study was sparked by real-life experiences shared online by NHS patients, particularly audiology patients– a field Parmar believes should lead by example. “We’re audiologists: we see more patients with hearing loss than anyone else in the NHS,” she said. “If we’re not deaf-aware, then how can we expect other parts of the NHS to be?”

The research team included NHS patients with deafness or hearing loss, who contributed to study design, data analysis, and report writing. As part of the study, they received training in research methods, ensuring the work was grounded in and reflective of lived experiences.

Co-author Zara Musker, current England Deaf Women’s futsal captain and winner of deaf sports personality of the year 2023 said her disappointing experiences with the NHS in part motivated her to qualify as an audiologist.

“The research is extremely important as I have faced my own experiences of inadequate access, and lack of deaf awareness in NHS healthcare not just in the appointment room but the whole process of booking appointments, being in the waiting room, interacting with clinicians and receiving important healthcare information,” said Musker. “I really hope that the results will really highlight that NHS services are still not meeting the needs of patients. Despite this, the study also highlights ways that the NHS can improve, and recommendations are suggested by those who face these barriers within healthcare.”

The researchers have also released a set of recommendations that could improve accessibility in the NHS, such as:

• Mandatory deaf awareness and communication training for NHS staff
• Consistent provision of interpreters and alert systems across all NHS sites
• Infrastructure improvements, such as text-based appointment systems and visual waiting room alerts
• The creation of walk-through assessments at hospitals to ensure accessibility across the full patient journey

“This is a legal obligation, not a luxury,” said Parmar. “No one should have to write down their symptoms in a GP appointment or worry they’ll miss their name being called in a waiting room. These are simple, solvable issues.”

A practice guidance resource – developed in consultation with patients and driven by this research – is open for feedback until 15 June and will be made publicly available as a free tool to help clinicians and NHS services improve deaf awareness. People can submit feedback at the British Society of Audiology website.

“Ultimately, better communication for deaf patients benefits everyone,” Parmar said. “We’re not just pointing out problems – we’re providing practical solutions.”

Reference:
Bhavisha Parmar et al. ‘“I always feel like I’m the first deaf person they have ever met.” Deaf Awareness, Accessibility and Communication in the United Kingdom's National Health Service (NHS): How can we do better?’ PLOS One (2025). DOI: 10.1371/journal.pone.0322850

A majority of individuals who are deaf or have hearing loss face significant communication barriers when accessing care through the National Health Service (NHS), with nearly two-thirds of patients missing half or more of vital information shared during appointments.

Better communication for deaf patients benefits everyone. We’re not just pointing out problems – we’re providing practical solutions. Bhavisha Parmarsturti via Getty ImagesA male doctor sits next to a male patient in a waiting room while holding a digital tablet.

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Yes

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. The 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 University 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 University, Shanghai, and the University 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. The team double-checked their results against two additional groups of 13-14 years old, totalling around 1,190 participants. The results are published today in Cell Reports.

The 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 University 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.”

The 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 University 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?”

The 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. The 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 tasksBarbara Sahakianharpazo_hope (Getty Images)Teenager asleep and wrapped in a blanket

The text in this work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. Images, including our videos, are Copyright ©University 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

Scientists at the Medical Research Council (MRC) Mitochondrial Biology Unit, University 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 University 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. The 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.”

The 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 University 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 conditionsEdmund Kunjibob_bosewell (Getty Images)Bald young man, front view

The text in this work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. Images, including our videos, are Copyright ©University 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

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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Yes

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

The text in this work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. Images, including our videos, are Copyright ©University 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.

YesLicence type: Attribution

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.

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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Yes

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.

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

Dr. Ayla Selamoglu is an expert on psychedelic medicine. Her work shows how nature’s most mysterious compounds provide new ways to combat mental illness.

A machine learning algorithm developed by Cambridge scientists was able to correctly identify in 97 cases out of 100 whether or not an individual had coeliac disease based on their biopsy, new research has shown.

Scientists have developed a new technique that has enabled ultra-powerful MRI scanners to identify tiny differences in patients’ brains that cause treatment-resistant epilepsy. It has allowed doctors at Addenbrooke’s Hospital, Cambridge, to offer the patients surgery to cure their condition.

Today sees the launch of the POrtal for Patient and Public Engagement in Dementia Research (POPPED) website, where anyone can give their feedback on dementia research projects.

Dementia affects 50 million people worldwide and 1 million people in the UK. Current treatments are limited, but research has led to some significant recent advances. For example, the first drugs which slow down the disease are now licensed in the UK and potential dementia blood tests are being trialled.

Scientists are also turning to existing drugs to see if they may be repurposed to treat dementia. As the safety profile of these drugs is already known, the move to clinical trials can be accelerated significantly. Researchers want to ask members of the public which drugs they would like to see prioritised for these clinical trials.

Dr Ben Underwood, from the Department of Psychiatry at the University of Cambridge and Cambridgeshire and Peterborough NHS Foundation Trust, said: “One thing that always improves research into medical conditions is the involvement of people with experience of them – in many respects, you are the experts, rather than us.

“As dementia is common, almost everyone has some experience of it, either through family, friends, work or meeting people with dementia in general life. It’s a problem across society and we want a wide range of opinions for the best way to tackle it.”

Dr Underwood has teamed up with Linda Pointon, a Programme Manager at the Department of Psychiatry, to create a website where everyone can give their feedback on dementia research projects. Linda herself has experience of caring for her mother-in-law, who had frontotemporal dementia and passed away in 2020.

Linda said: “We’re launching our website because we want as many people as possible to share their views and help us guide the direction of our research. It’s a great opportunity for all of us who have been affected by dementia, either directly or caring for a friend or relative, to help researchers understand what aspects of these potential treatments are important and meaningful, both in terms of benefits and side-effects.”

The information collected by the POPPED team will be used to help inform AD-SMART, a trial to be led by Imperial College London, which will test several existing drugs alongside a placebo to quickly determine if any can slow early Alzheimer’s progression.

Dr Underwood added: “Instead of asking a few people what might be helpful, our website gives us the opportunity to ask thousands of people. The more people who use it, the more powerful it will be, so I’d encourage everyone to visit the site and tell us what they think. We can use it to work together to beat dementia, a condition whose effects I see in my clinic every day.”

Cambridge researchers are seeking the views of people with lived experience of dementia – patients and their friends and families – on which existing drugs should be repurposed for clinical trials to see whether they can slow or halt the progress of dementia.

One thing that always improves research into medical conditions is the involvement of people with experience of them – in many ways, they are the experts, not usBen UnderwoodToa55 (Getty Images)Elderly woman putting pills into pill box for the week - stock photo

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Yes

The technique – known as deep brain stimulation – is to be trialled at Addenbrooke’s Hospital, Cambridge, and King’s College Hospital, London. The team behind the Brain-PACER: Brain Pacemaker Addiction Control to End Relapse study is currently recruiting individuals with severe alcohol or opioid addiction who are interested in taking part.

Deep brain stimulation (DBS) is a neurosurgical procedure that delivers ongoing stimulation to the brain. DBS acts as a brain pacemaker to normalise abnormal brain activity. It is well-tolerated, effective and widely used for neurological disorders and obsessive compulsive disorder.

Although there have been several proof-of-concept studies that suggest DBS is effective in addictions, Brain-PACER – a collaboration between the University of Cambridge, Kings College London and the University of Oxford – is the first major, multicentre study to use DBS to treat craving and relapse in severe addiction.

Chief Investigator Professor Valerie Voon, from the Department of Psychiatry at the University of Cambridge, said: “While many people who experience alcohol or drug addiction can, with the right support, control their impulses, for some people, their addiction is so severe that no treatments are effective. Their addiction is hugely harmful to their health and wellbeing, to their relationships and their everyday lives.

“Initial evidence suggests that deep brain stimulation may be able to help these individuals manage their conditions. We’ve seen how effective it can be for other neurological disorders from Parkinson’s to OCD to depression. We want to see if it can also transform the lives of people with intractable alcohol and opioid addiction.”

The primary aim of the Brain-PACER study is to assess the effects of DBS to treat alcohol and opioid addiction in a randomised controlled trial study. Its mission is twofold: to develop effective treatments for addiction and to understand the brain mechanisms that drive addiction disorders.

DBS is a neurosurgical treatment that involves implanting a slender electrode in the brain and a pacemaker under general anaesthesia. These electrodes deliver electrical impulses to modulate neural activity, which can help alleviate symptoms of various neurological and psychiatric disorders.

Keyoumars Ashkan, Professor of Neurosurgery at King’s College Hospital and the lead surgeon for the study, said: “Deep brain stimulation is a powerful surgical technique that can transform lives. It will be a major leap forward if we can show efficacy in this very difficult disease with huge burden to the patients and society.”

During surgery, thin electrodes are carefully placed in precise locations of the brain. These locations are chosen based on the condition being treated. For addiction, the electrodes are placed in areas involved in reward, motivation, and decision-making.

Harry Bulstrode, Honorary Consultant Neurosurgeon at Cambridge University Hospitals NHS Foundation Trust and Clinical Lecturer at the University of Cambridge, said: "We see first-hand how deep brain stimulation surgery can be life-changing for patients with movement disorders such as Parkinson’s disease and essential tremor. Thanks to this trial, I am now hopeful that we can help patients and their families – who have often struggled for years – by targeting the parts of the brain linked to addiction."

Dr David Okai, Visiting Senior Lecturer from the Institute of Psychiatry, Psychology & Neuroscience, King’s College London, added: “DBS is safe, reversible and adjustable, so it offers a flexible option for managing chronic conditions. We hope it will offer a lifeline to help improve the quality of life for patients whose treatment until now has been unsuccessful.”

Details on the trial, including criteria for participation and how to sign up, can be found on the Brain-PACER website.

The research is supported by the Medical Research Council, UK Research & Innovation.

People suffering from severe alcohol and opioid addiction are to be offered a revolutionary new technique involving planting electrodes in the brain to modulate brain activity and cravings and improve self-control.

We’ve seen how effective deep brain stimulation can be for neurological disorders from Parkinson’s to OCD to depression. We want to see if it can also transform the lives of people with intractable alcohol and opioid addictionValerie VoonShamir R, Noecker A and McIntyre CGraphic demonstrating deep brain stimulation

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Using real world data from 1,600 patients, available through a database created for speeding up research and innovation, the team also found that its reliability differs significantly in winter compared to autumn.

Asthma is a common lung condition that can cause wheezing and shortness of breath, occasionally severe. Around 6.5% of people over six years old in the UK are affected by the condition. Treatments include the use of inhalers or nebulisers to carry medication into the lungs.

The majority of asthma attacks occur at nighttime or early in the morning. Although this may in part be due to cooler nighttime air and exposure to dust mites and allergens, it also suggests that circadian rhythms – our ‘body clocks’ – likely play a role.

Researchers at the Victor Phillip Dahdaleh Heart and Lung Research Institute, a collaboration between the University of Cambridge and Royal Papworth Hospital NHS Foundation Trust (RPH), wanted to explore whether these circadian rhythms may also have an impact on our ability to diagnose asthma, using routinely performed clinical testing.

Typically, people with suspected asthma will be offered a spirometry test, which involves taking a deep breath in, then breathing out hard and fast for as long as possible into a tube to assess lung function. They will then be administered the drug salbutamol via an inhaler or nebuliser, and shortly afterwards retake the spirometry test.

Salbutamol works by opening up the airways, so a positive test result – that is, a difference in readings between the initial and follow-up spirometry tests – means that the airways must have been narrower or obstructed to begin with, suggesting that the patient could have asthma.

Cambridge University Hospitals NHS Foundation Trust (CUH) has recently set up the Electronic Patient Record Research and Innovation (ERIN) database so that researchers can access patient data in a secure environment to help in their research and speed up improvements in patient care.

Using this resource, the Cambridge team analysed data from 1,600 patients referred to CUH between 2016 and 2023, adjusted for factors such as age, sex, body mass index (BMI), smoking history, and the severity of the initial impairment in lung function.

In findings published today in Thorax, the researchers found that starting at 8.30am, with every hour that passed during the working day, the chances of a positive response to the test – in other words, the patient’s lungs responding to treatment, suggesting that they could have asthma – decreased by 8%.

Dr Ben Knox-Brown, Lead Research Respiratory Physiologist at RPH, said: “Given what we know about how the risk of an asthma attack changes between night and day, we expected to find a difference in how people responded to the lung function test, but even so, we were surprised by the size of the effect.

“This has potentially important implications. Doing the test in the morning would give a more reliable representation of a patient's response to the medication than doing it in the afternoon, which is important when confirming a diagnosis such as asthma.”

The researchers also discovered that individuals were 33% less likely to have a positive result if tested during autumn when compared to those tested during winter.

Dr Akhilesh Jha, a Medical Research Council Clinician Scientist at the University of Cambridge and Honorary Consultant in Respiratory Medicine at CUH, said that there may be a combination of factors behind this difference.

“Our bodies have natural rhythms – our body clocks,” Jha said. “Throughout the day, the levels of different hormones in our bodies go up and down and our immune systems perform differently, for example. Any of these factors might affect how people respond to the lung function test.

“The idea that the time of day, or the season of the year, affects our health and how we respond to treatments is something we’re seeing increasing evidence of. We know, for example, that people respond differently to vaccinations depending on whether they’re administered in the morning or afternoon. The findings of our study further support this idea and may need to be taken into account when interpreting the results of these commonly performed tests.”

Reference
Knox-Brown, B et al. The effect of time of day and seasonal variation on bronchodilator responsiveness: The SPIRO-TIMETRY study. Thorax; 12 March 2025; DOI: 10.1136/thorax-2024-222773

A lung function test used to help diagnose asthma works better in the morning, becoming less reliable throughout the day, Cambridge researchers have found.

Throughout the day, the levels of different hormones in our bodies go up and down and our immune systems perform differently. Any of these factors might affect how people respond to the lung function testAkhilesh JhaKoldunov (Getty Images)Man testing breathing function by spirometry - stock photo

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

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