Identification of enterotoxigenic Escherichia coli (ETEC) clades with long-term global distribution
von Mentzer A, Connor TR, Wieler LH, Semmler T, Iguchi A, Thomson NR, Rasko DA, Joffre E, Corander J, Pickard D, Wiklund G, Svennerholm AM, Sjöling A, Dougan G. Identification of enterotoxigenic Escherichia coli (ETEC) clades with long-term global distribution.
10 November 2014
Publication: Nature Communications
Samantha Ip, Teri-Louise North, Fatemeh Torabi, Yangfan Li, Hoda Abbasizanjani, Ashley Akbari, Elsie Horne, Rachel Denholm, Spencer Keene, Spiros Denaxas, Amitava Banerjee, Kamlesh Khunti, Cathie Sudlow, William N. Whiteley, Jonathan A. C. Sterne, Angela M. Wood, Venexia Walker, the CVD-COVID-UK/COVID-IMPACT Consortium & the Longitudinal Health and Wellbeing COVID-19 National Core Study
31 July 2024
Summary
A new study has found heart attacks and strokes were lower after COVID-19 vaccination than before or without vaccination.
View publicationPublication: American Journal of Human Genetics
Thomas Vanderstichele, Katie L. Burnham, Niek de Klein, Michael Inouye, Dirk S. Paul, Emma E. Davenport et al
24 July 2024
Gene misexpression is the aberrant transcription of a gene in a context where it is usually inactive. Despite its known pathological consequences in specific rare diseases, we have a limited understanding of its wider prevalence and mechanisms in humans. To address this, we analyzed gene misexpression in 4,568 whole-blood bulk RNA sequencing samples from INTERVAL study blood donors.
We found that while individual misexpression events occur rarely, in aggregate they were found in almost all samples and a third of inactive protein-coding genes. Using 2,821 paired whole-genome and RNA sequencing samples, we identified that misexpression events are enriched in cis for rare structural variants. We established putative mechanisms through which a subset of SVs lead to gene misexpression, including transcriptional readthrough, transcript fusions, and gene inversion. Overall, we develop misexpression as a type of transcriptomic outlier analysis and extend our understanding of the variety of mechanisms by which genetic variants can influence gene expression.
View publicationPublication: eClinicaMedicine
Liz Yuanxi Lee j, Delshad Vaghari j, Michael C. Burkhart, Peter Tino, Marcella Montagnese, Zhuoyu Li,
Katharina Zühlsdorff, Joseph Giorgio, Guy Williams, Eddie Chong, Christopher Chen, Benjamin R. Underwood, Timothy Rittman, Zoe Kourtzi
12 July 2024
Summary
Cambridge researchers have developed an artificially-intelligent tool capable of predicting in four cases out of five whether people with early signs of dementia will remain stable or develop Alzheimer’s disease. Read the full press release.
View publicationPublication: Magnetic Resonance Materials in Physics, Biology and Medicine
Jonathan Birchall, Ines Horvat-Menih, Joshua Kaggie, Arnold Benjamin, Martin Graves, Ian Wilkinson, Ferdia Gallagher, Mary McLean
1 June 2024
Summary
We estimated the sodium content and relaxation of organs within the abdomen of healthy human volunteers using magnetic resonance imaging (MRI). Existing techniques for measuring sodium content are non-specific or require an invasive biopsy. Clinical translation of sodium content monitoring may aid in diagnosis of disease such as cancer, chronic kidney disease and hypertension at earlier stages, and more regular monitoring may help to evaluate efficacy of treatment.
View publicationPublication: BJPsych
London SR, Chen S, Sidhom E, Lewis JR, Wolverson E, Cardinal RN, Roalf D, Mueller C, Underwood BR
13 May 2024
Summary
People diagnosed with dementia are often diagnosed in memory clinics and then discharged back to their GP. Some later need intensive mental health support (e.g. crisis teams, or inpatient admission) but others do not. This study shows that it’s possible to predict who will and who won’t, with useful accuracy, based on information collected routinely at the time of initial diagnosis.
View publicationPublication: The Lancet regional health - Europe
Isaac Allen, Hend Hassan, Walburga Yvonne Joko-Fru, Catherine Huntley, Lucy Loong, Tameera Rahman, Bethany Torr, Andrew Bacon, Craig Knott, Sophie Jose, Sally Vernon, Margreet Lüchtenborg, Joanna Pethick, Katrina Lavelle, Fiona McRonald, Diana Eccles, Eva J.A Morris, Steven Hardy, Clare Turnbull,
Marc Tischkowitz, Paul Pharoah, Antonis C. Antoniou,
25 April 2024
Summary
Survivors of breast cancer are at significantly higher risk of developing second cancers, including endometrial and ovarian cancer for women and prostate cancer for men, according to new research studying data from almost 600,000 NHS England patients. Read the full news item.
View publicationPublication: BJPsych
Emilio Fernandez-Egea, Shanquan Chen, Estela Sangüesa, Patricia Gassó, Marjan Biria, James Plaistow, Isaac Jarratt-Barnham, Nuria Segarra, Sergi Mas, Maria-Pilar Ribate, Cristina B García, Naomi A Fineberg, Yulia Worbe, Rudolf N Cardinal, Trevor W Robbins
Summary
This study looked at a group of people treated with clozapine for schizophrenia, examining obsessive-compulsive symptoms (OCS). For some, genetic variants were examined. OCS were common in this group (37.9%). Analysis suggested that both psychosis and clozapine may drive aspects of OCS.
View publicationPublication: Nature Neuroscience
Richard Dear, Konrad Wagstyl, Jakob Seidlitz, Ross D. Markello, Aurina Arnatkevičiūtė, Kevin M. Anderson, Richard A. I. Bethlehem, Lifespan Brain Chart Consortium, Armin Raznahan, Edward T. Bullmore & Petra E. Vértes
22 April 2024
Summary
Human brain organization involves the coordinated expression of thousands of genes. For example, the first principal component (C1) of cortical transcription identifies a hierarchy from sensorimotor to association regions. In this study, optimized processing of the Allen Human Brain Atlas revealed two new components of cortical gene expression architecture, C2 and C3, which are distinctively enriched for neuronal, metabolic and immune processes, specific cell types and cytoarchitectonics, and genetic variants associated with intelligence. Using additional datasets (PsychENCODE, Allen Cell Atlas and BrainSpan), we found that C1–C3 represent generalizable transcriptional programs that are coordinated within cells and differentially phased during fetal and postnatal development.
View publicationPublication: PNAS
Sofia C. Orellana Richard A. I. Bethlehem, Ivan L. Simpson-Kent and Edward T. Bullmore
9 April 2024
Summary
A new study has found that childhood maltreatment can have an impact into adulthood because of how it effects an individual’s risk of poor physical health and traumatic experiences many years later
View publicationPublication: Nature Genetics
Yajie Zhao, Maria Chukanova, Katherine A. Kentistou, Zammy Fairhurst-Hunter, Anna Maria Siegert, Raina Y. Jia, Georgina K. C. Dowsett, Eugene J. Gardner, Katherine Lawler, Felix R. Day, Lena R. Kaisinger, Yi-Chun Loraine Tung, Brian Yee Hong Lam, Hsiao-Jou Cortina Chen, Quanli Wang, Jaime Berumen-Campos, Pablo Kuri-Morales, Roberto Tapia-Conyer, Jesus Alegre-Diaz, Inês Barroso, Jonathan Emberson, Jason M. Torres, Rory Collins, Danish Saleheen, Katherine R. Smith, Dirk S. Paul, Florian Merkle, I. Sadaf Farooqi, Nick J. Wareham, Slavé Petrovski, Stephen O’Rahilly, Ken K. Ong, Giles S. H. Yeo & John R. B. Perry
4 April 2024
Summary
A study has identified genetic variants in two genes that have some of the largest impacts on obesity risk discovered to date.
The discovery of rare variants in the genes BSN and APBA1 are some of the first obesity-related genes identified for which the increased risk of obesity is not observed until adulthood.
View publicationPublication: Nature aging
Yang Liu, Scott C. Ritchie, Shu Mei Teo, Matti O. Ruuskanen, Oleg Kambur, Qiyun Zhu, Jon Sanders, Yoshiki Vázquez-Baeza, Karin Verspoor, Pekka Jousilahti, Leo Lahti, Teemu Niiranen, Veikko Salomaa, Aki S. Havulinna, Rob Knight, Guillaume Méric & Michael Inouye
25 March 2024
Summary
Researchers have shown that risk scores based on our genes and gut bacteria can improve the prediction of diseases such as type 2 diabetes and prostate cancer over traditional risk factors alone.
View publicationPublication: Nature Communications
Genevieve I. Cezard, Rachel E. Denholm, Rochelle Knight, Yinghui Wei, Lucy Teece, Renin Toms, Harriet J. Forbes, Alex J. Walker, Louis Fisher, Jon Massey, Lisa E. M. Hopcroft, Elsie M. F. Horne, Kurt Taylor, Tom Palmer, Marwa Al Arab, Jose Ignacio Cuitun Coronado, Samantha H. Y. Ip, Simon Davy, Iain Dillingham, Sebastian Bacon, Amir Mehrkar, Caroline E. Morton, Felix Greaves, Catherine Hyams, George Davey Smith, John Macleod, Nishi Chaturvedi, Ben Goldacre, William N. Whiteley, Angela M. Wood, Jonathan A. C. Sterne & Venexia Walker On behalf of the Longitudinal Health and Wellbeing and Data and Connectivity UK COVID-19 National Core Studies, CONVALESCENCE study and the OpenSAFELY collaborative
11 March 2024
Summary
Researchers looked at cardiovascular diseases in different vaccination and variant eras using linked electronic health records for ~40% of the English population. They studied distinct groups: a ‘pre-vaccination’ cohort in the wild-type/Alpha variant eras and ‘vaccinated’ and ‘unvaccinated’ cohorts in the Delta variant era.
They showed that people with COVID-19 are more likely to develop cardiovascular diseases in the first 4 weeks after diagnosis compared to people without COVID-19. The effects can be long lasting. The excess risk of cardiovascular disease remains elevated up to 6 months after COVID-19 diagnosis but it reduces over time. People who had COVID-19 in the wild-type/Alpha variant eras (before vaccination became available to them) are at higher risk of cardiovascular events up to two years after COVID-19.
View publicationPublication: Pediatrics
Grace H. Kromm; Hilary Patankar; Shubang Nagalotimath; Hilary Wong, Topun Austin,
5 March 2024
Summary
Babies who suffer brain injury before, during or shortly after birth because of lack of oxygen to the brain may face longer-term socioemotional and psychological complications, research supported by the NIHR Cambridge BRC has shown. Read the news article.
View publicationPublication: Nature
L. Peruzzotti-Jametti, C. M. Willis, G. Krzak, R. Hamel, L. Pirvan, R.-B. Ionescu, J. A. Reisz, H. A. Prag, M. E. Garcia-Segura, V. Wu, Y. Xiang, B. Barlas, A. M. Casey, A. M. R. van den Bosch, A. M. Nicaise, L. Roth, G. R. Bates, H. Huang, P. Prasad, A. E. Vincent, C. Frezza, C. Viscomi, G. Balmus, Z. Takats, J. C. Marioni, A. D’Alessandro, M. P. Murphy, I. Mohorianu & S. Pluchino
13 March 2024
Summary
Sustained smouldering, or low-grade activation, of myeloid cells is a common hallmark of several chronic neurological diseases, including multiple sclerosis. Distinct metabolic and mitochondrial features guide the activation and the diverse functional states of myeloid cells. However, how these metabolic features act to perpetuate inflammation of the central nervous system is unclear. Here, using a multiomics approach, we identify a molecular signature that sustains the activation of microglia through mitochondrial complex I activity driving reverse electron transport and the production of reactive oxygen species.
View publicationPublication: Nature
Minna K. Karjalainen, Savita Karthikeyan, Clare Oliver-Williams, Eeva Sliz, Elias Allara, Wing Tung Fung, Praveen Surendran, Weihua Zhang, Pekka Jousilahti, Kati Kristiansson, Veikko Salomaa, Matt Goodwin, David A. Hughes, Michael Boehnke, Lilian Fernandes Silva, Xianyong Yin, Anubha Mahajan, Matt J. Neville, Natalie R. van Zuydam, Renée de Mutsert, Ruifang Li-Gao, Dennis O. Mook-Kanamori, Ayse Demirkan, Jun Liu, China Kadoorie Biobank Collaborative Group, Estonian Biobank Research Team, FinnGen, …Johannes Kettunen
6 March 2024
Summary
Genome-wide association analyses using high-throughput metabolomics platforms have led to novel insights into the biology of human metabolism. This detailed knowledge of the genetic determinants of systemic metabolism has been pivotal for uncovering how genetic pathways influence biological mechanisms and complex diseases. Researchers present a genome-wide association study for 233 circulating metabolic traits quantified by nuclear magnetic resonance spectroscopy in up to 136,016 participants from 33 cohorts.
View publicationPublication: JAC-Antimicrobial Resistance
Nick K Jones, Brian Tom, Constantinos Simillis, John Bennet, Stavros Gourgiotis, Jo Griffin, Helen Blaza, Shuaib Nasser, Stephen Baker, Theodore Gouliouris
16 February 2024
Summary
Being labelled as allergic to penicillin has been associated with an increase in the risk of infection after surgery in a number of studies in USA, Canada and France. This is thought to be due to the use of inferior antibiotic regimens for preventing infection at the time of surgery. We studied a large cohort of patients that had undergone gastrointestinal surgery at Addenbrooke’s Hospital to see if this observation could be generalised to a UK population, where the range of preventative antibiotic regimens in routine use differs significantly. We found no evidence of association between penicillin allergy labels and likelihood of surgical site infection in this cohort, suggesting significant international variation in the impact of penicillin allergy labels on patients.
View publicationPublication: The Lancet
Nurulamin M Noor, James C Lee, Simon Bond, Francis Dowling, Biljana Brezina, Kamal V Patel, Tariq Ahmad, Paul J Banim, James W Berrill, Rachel Cooney, Juan De La Revilla Negro, Shanika de Silva, Shahida Din, Dharmaraj Durai, John N Gordon, Prof Peter M Irving, Matthew Johnson, Alexandra J Kent, Klaartje B Kok, Prof Gordon W Moran, Craig Mowat, Pritash Patel, Prof Chris S Probert, Tim Raine, Rebecca Saich, Abigail Seward, Dan Sharpstone, Melissa A Smith, Sreedhar Subramanian, Sara S Upponi, Alan Wiles, Horace R T Williams, Prof Gijs R van den Brink, Prof Séverine Vermeire, Prof Vipul Jairath, Prof Geert R D’Haens, Prof Eoin F McKinney, Paul A Lyons, Prof James O Lindsay, Nicholas A Kennedy, Prof Kenneth G C Smith, Prof Miles Parkes,
22 February 24
Summary
A large-scale clinical trial of treatment strategies for Crohn’s disease has shown that offering early advanced therapy to all patients straight after diagnosis can drastically improve outcomes, including by reducing the number of people requiring urgent abdominal surgery for treatment of their disease by ten-fold. Read the full news story.
View publicationPublication: The British Journal of Psychiatry
Axel A. S. Laurell, Ashwin V. Venkataraman, Tatjana Schmidt, Marcella Montagnese, Christoph Mueller,
Robert Stewart, Jonathan Lewis, Clare Mundell, Jeremy D. Isaacs, Mani S. Krishnan, Robert Barber, Timothy Rittman and Benjamin R. Underwood
18 January 2024
Summary
Clinical researchers at Cambridgeshire and Peterborough NHS Foundation Trust and South London and Maudsley NHS Foundation Trust have collaborated to model how many patients might receive new treatments for Alzheimer’s disease currently under review.
Using data on eligible patients from both Trusts and scaling up, the team estimate that a maximum of 30,000 people using dementia services around the country would be suitable for these potential treatments and that NHS providers could provide them on a small scale if approved. Read the full news story.
View publicationPublication: Lancet Microbe
Francesc Coll, Theodore Gouliouris, Beth Blane, Corin A Yeats, Kathy E Raven, Catherine Ludden, Fahad A Khokhar, Hayley J Wilson, Leah W Roberts, Ewan M Harrison, Carolyne S Horner, Le Thi Hoi, Nguyen Thi Hoa, Nguyen Vu Trung, Nicholas M Brown, Prof Mark A Holmes, Prof Julian Parkhill, P Mili Estee Török, Prof Sharon J Peacock,
11 January 2024
Summary
A team of scientists at the Cambridge University Hospitals NHS Foundation Trust, University of Cambridge, Wellcome Sanger Institute and the London School of Hygiene and Tropical Medicine have gone a step forward by establishing the agreement between culture-based laboratory methods and genome sequencing for antibiotic resistance determination in Enterococcus faecium, one of the top 10 bacterial pathogens with the highest mortality burden globally. The team curated a set of over 200 genetic markers that most accurately predict resistance to 12 different, clinically relevant antibiotics in a collection of over 4,000 E. faecium strains. For key antibiotics such as ampicillin, ciprofloxacin, vancomycin and linezolid, the team reported very high diagnostic accuracy, and improved accuracy for the detection of resistance to other antibiotics compared to previous state-of-the-art predictive methods. In addition, the authors implemented the antibiotic resistance predictions on Pathogenwatch
View publicationPublication: Nature
M. Fejzo, N. Rocha, I. Cimino, S. M. Lockhart, C. J. Petry, R. G. Kay, K. Burling, P. Barker, A. L. George, N. Yasara, A. Premawardhena, S. Gong, E. Cook, D. Rimmington, K. Rainbow, D. J. Withers, V. Cortessis, P. M. Mullin, K. W. MacGibbon, E. Jin, A. Kam, A. Campbell, O. Polasek, G. Tzoneva, F. M. Gribble, G. S. H. Yeo, B. Y. H. Lam, V. Saudek, I. A. Hughes, K. K. Ong, J. R. B. Perry, A. Sutton Cole, M. Baumgarten, P. Welsh, N. Sattar, G. C. S. Smith, D. S. Charnock-Jones, A. P. Coll, C. L. Meek, S. Mettananda, C. Hayward, N. Mancuso & S. O’Rahilly
Summary
13 December 2023
A Cambridge-led study supported by the NIHR Cambridge BRC has shown why many women experience nausea and vomiting during pregnancy – and why some women become so sick they need to be admitted to hospital. The culprit is a hormone produced by the fetus – a protein known as GDF15. But how sick the mother feels depends on a combination of how much of the hormone is produced by the fetus and how much exposure the mother had to this hormone before becoming pregnant. Read the full news story.
View publication