̽��ֱ�� of Cambridge - National Institute for Health and Care Research (NIHR)

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

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

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AI is as good as pathologists at diagnosing coeliac disease, study finds

cjb250 — Thu, 27 Mar 2025 13:00:03 +0000

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Find out how Cambridge is Changing the Story of Cancer

Adapted from a press release from Cancer Research UK

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

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

Antonis Antoniou

BrianPenny (Pixabay)

Image representing AI and Big Data

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Landmark 'pill-on-a-thread' cancer screening trial welcomes first participants

cjb250 — Thu, 28 Nov 2024 12:00:02 +0000

A pivotal clinical trial of a 'pill-on-a-thread' test, which will decide if it becomes a new screening programme for oesophageal cancer, has welcomed its first participants.

‘Teen-friendly’ mindfulness therapy aims to help combat depression

cjb250 — Mon, 18 Nov 2024 08:00:40 +0000

Researchers have developed a mindfulness therapy tailored specifically to appeal to teenagers to help them cope with increasing levels of depression and mental health problems.

Team’s hip replacement surgery invention is set to be world first

sc604 — Fri, 13 Sep 2024 11:18:10 +0000

They have just won an award to develop their technology, which aims to make hip surgery more precise and deliver better and longer-lasting outcomes – which is good for patients and the NHS.

̽��ֱ��National Institute for Health and Care Research (NIHR) has awarded a £1.4 million Invention for Innovation (i4i) Product Development Award to advance work on the team’s “smart” joint “trial liner”.

̽��ֱ��sensors measure forces passing through the hip joint to help the surgeon assess and balance the soft tissues, which aids the accurate positioning of the implant.

Once measurements are complete using the wireless surgical aid, the surgeon marks the ideal position for the implant, removes the smart trial liner, and completes the operation.

There are currently no technologies that can deliver such readings during an operation and in real-time, and instead surgeons balance the joint based on feel and anatomical landmarks.

This is despite over two million total hip replacements being performed annually, with the number constantly rising due to increasing lifespans. Younger patients are starting to need hip replacements as well, so implants need to withstand higher stresses and last longer, to avoid spiralling into a vicious circle of revision surgery and higher rates of dissatisfaction.

Driving this clinical initiative is the chief investigator from Cambridge ̽��ֱ�� Hospitals (CUH) NHS Foundation Trust, Consultant orthopaedic surgeon, clinical and research lead of the Young Adult Hip Service, and Affiliate Associate Professor at the ̽��ֱ�� of Cambridge Vikas Khanduja.

̽��ֱ��technology development is being overseen by Professor Sohini Kar-Narayan from Cambridge’s Department of Materials Science and Metallurgy, together with Dr Jehangir Cama, who is leading on translational and commercialisation activities. They are joined by Consultant clinical scientist and CUH head of clinical engineering, Professor Paul White.

“We’re really looking forward to this next phase of product development that will see us move towards an actual product that is fit for clinical use, and that has the potential to revolutionise joint replacement surgery,” said Kar-Narayan.

“This funding will bring together wide-ranging expertise to help us further develop our prototype, bringing this technology closer to clinical use,” said Cama.

̽��ֱ��team currently has a prototype version of the device, which has been validated in the laboratory and in other tests. However, the NIHR award is important for further development and finalisation of the design and compliance with regulations before it can be tested in a living patient.

̽��ֱ��team’s underlying sensor technology intellectual property has been protected via a patent application filed by Cambridge Enterprise, the ̽��ֱ��’s commercialisation arm.

“This is a fantastic example of Cambridge’s entrepreneurial clinicians, academics and their institutions working together with forward-looking funders to create a positive impact for markets, society and importantly patients,” said Dr Terry Parlett, Commercialisation Director at Cambridge Enterprise.

Adapted from a CUH press release.

Technology that could transform the future of hip replacement surgery is being pioneered by a team of experts in Cambridge.

SEBASTIAN KAULITZKI/SCIENCE PHOTO LIBRARY via Getty Images

Illustration of a human hip joint

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Children switch to walking and cycling to school after introduction of London’s Ultra-Low Emission Zone

cjb250 — Wed, 04 Sep 2024 23:01:29 +0000

Car travel contributes to air pollution, a major cause of heart and lung diseases including asthma attacks. Beyond this, it limits children's opportunities for physical activity, hindering their development and mental health, and increasing their risk of obesity and chronic illnesses.

Despite UK guidelines recommending a daily average of 60 minutes of moderate-to-vigorous physical activity for school-aged children and adolescents, less than half (45%) of children aged 5-16 met these levels in 2021. One in three children aged 10-11 in the UK are overweight or obese.

In April 2019, London introduced the ULEZ to help improve air quality by reducing the number of vehicles on the road that do not meet emissions standards. According to Transport for London, the central London ULEZ reduced harmful nitrogen oxides by 35% and particulate matter by 15% in central London within the first 10 months of its introduction.

In a study published on 5 September in the International Journal of Behavioral Nutrition and Physical Activity, a team led by researchers at the ̽��ֱ�� of Cambridge and Queen Mary ̽��ֱ�� of London examined the impact of the ULEZ on how children travelled to school. ̽��ֱ��research was part of the CHILL study (Children’s Health in London and Luton).

̽��ֱ��study examined data from almost 2,000 children aged 6 to 9 years attending 84 primary schools in London and the control area, Luton. 44 schools were located with catchment areas within or bordering London’s ULEZ, and these were compared to a similar number in Luton and Dunstable (acting as a comparison group). ̽��ֱ��inclusion of the comparison site enabled the researchers to draw more robust conclusions and increased confidence in attributing the observed changes to the introduction of the ULEZ.

̽��ֱ��researchers collected data from the period June 2018 to April 2019, prior to ULEZ implementation, and again in the period June 2019 to March 2020, the year after implementation of the ULEZ but prior to COVID-19-related school closures.

Among those children in London who travelled by car prior to the introduction of the ULEZ, 4 in 10 (42%) switched to active modes, while one in 20 (5%) switched from active to inactive modes.

In contrast, only one in 5 (20%) children in Luton swapped from car travel to active modes, while a similar number (21%) switched from active to car travel. This means that children in London within the ULEZ were 3.6 times as likely to shift from travelling by car to active travel modes compared to those children in Luton and far less likely (0.11 times) to switch to inactive modes.

̽��ֱ��impact of the ULEZ on switching to active travel modes was strongest for those children living more than half a mile (0.78km) from school. This was probably because many children who live closer to school already walked or cycled to school prior to the ULEZ and therefore there was more potential for change in those living further away from their school.

̽��ֱ��study’s first author, Dr Christina Xiao from the Medical Research Council (MRC) Epidemiology Unit at the ̽��ֱ�� of Cambridge, said: “ ̽��ֱ��introduction of the ULEZ was associated with positive changes in how children travelled to school, with a much larger number of children moving from inactive to active modes of transport in London than in Luton.

“Given children's heightened vulnerability to air pollution and the critical role of physical activity for their health and development, financial disincentives for car use could encourage healthier travel habits among this young population, even if they do not necessarily target them.”

Joint senior author Dr Jenna Panter from the MRC Epidemiology Unit, ̽��ֱ�� of Cambridge, said: “ ̽��ֱ��previous Government was committed to increasing the share of children walking to school by 2025 and we hope the new Government will follow suit. Changing the way children travel to school can have significant effects on their levels of physical activity at the same time as bringing other co-benefits like improving congestion and air quality, as about a quarter of car trips during peak morning hours in London are made for school drop-offs.”

After ULEZ was introduced in Central London, the total number of vehicles on the roads fell by 9%, and by one-third (34%) for vehicles that failed to meet the required exhaust emission standards, with no clear evidence of traffic moving instead to nearby areas.

Joint senior author Professor Chris Griffiths from the Wolfson Institute of Population Health, Queen Mary ̽��ֱ�� of London, said: “Establishing healthy habits early is critical to healthy adulthood and the prevention of disabling long term illness, especially obesity and the crippling diseases associated with it. ̽��ֱ��robust design of our study, with Luton as a comparator area, strongly suggests the ULEZ is driving this switch to active travel. This is evidence that Clean Air Zone intervention programmes aimed at reducing air pollution have the potential to also improve overall public health by addressing key factors that contribute to illness.”

Due to the introduction of COVID-19 restrictions in late March 2020, the study was paused in 2020/2021 and results are only reported for the first year of follow-up. However, as both London and Luton, the study areas, were similarly affected, the researchers believe this disruption is unlikely to have affected the results. ̽��ֱ��study has restarted following up with the children to examine the longer-term impacts of the ULEZ. This will identify if the changes they observed in the year following the introduction of the ULEZ persist.

̽��ֱ��study was conducted in collaboration with Queen Mary ̽��ֱ�� of London, Imperial College, ̽��ֱ�� of Bedfordshire, ̽��ֱ�� of Edinburgh, ̽��ֱ�� of Oxford and ̽��ֱ�� of Southern California and funded by the National Institute for Health and Care Research Public Health Research (NIHR), NIHR Applied Research Collaboration North Thames, and Cambridge Trust.

Reference
Xiao, C et al. Children’s Health in London and Luton (CHILL) cohort: A 12-month natural experimental study of the effects of the Ultra Low Emission Zone on children’s travel to school. IJBNPA; 5 Sept 2024; DOI: 10.1186/s12966-024-01621-7

Four in ten children in Central London who travelled to school by car switched to more active modes of transport, such as walking, cycling, or public transport, following the introduction of the Ultra-Low Emission Zone (ULEZ), according to new research. In the comparison area with no ULEZ, Luton, only two in ten children made this switch over the same period.

Changing the way children travel to school can have significant effects on their levels of physical activity at the same time as bringing other co-benefits like improving congestion and air quality

Jenna Panter

Matt Brown

ULEZ signs (cropped)

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