Publications

Publication: Nature Genetics

Chris Eijsbouts, Tenghao Zheng, Nicholas A. Kennedy, Ferdinando Bonfiglio, Carl A. Anderson, Loukas Moutsianas, Joanne Holliday, Jingchunzi Shi, Suyash Shringarpure, 23andMe Research Team, Alexandru-Ioan Voda, The Bellygenes Initiative, Gianrico Farrugia, Andre Franke, Matthias Hübenthal, Gonçalo Abecasis, Matthew Zawistowski, Anne Heidi Skogholt, Eivind Ness-Jensen, Kristian Hveem, Tõnu Esko, Maris Teder-Laving, Alexandra Zhernakova, Michael Camilleri, Guy Boeckxstaens, Peter J. Whorwell, Robin Spiller, Gil McVean, Mauro D’Amato, Luke Jostins & Miles Parkes

05 November 2021

Summary

An international study of more than 50,000 people with irritable bowel syndrome (IBS) has revealed that IBS symptoms may be caused by the same biological processes as conditions such as anxiety.

The research team, including more than 40 institutions showed that overall, heritability of IBS (how much your genes influence the likelihood of developing a particular condition) is quite low, indicating the importance of environmental factors such as diet, stress and patterns of behaviour that may also be shared in the family environment.

However, 6 genetic differences were more common in people with IBS than in controls. Researchers found most of the altered genes appear to have more clear-cut roles in the brain and possibly the nerves which supply the gut, rather than the gut itself.

The team also looked for overlap between susceptibility to IBS and other physical and mental health conditions.  They found that the same genetic make-up that puts people at increased risk of IBS also increases the risk for common mood and anxiety disorders such as anxiety, depression, and neuroticism, as well as insomnia. However,  this doesn’t mean that anxiety causes IBS symptoms or vice versa.

Read the full story. 

Publication: The Lancet Diabetes and Endocrinology

Christiane Drechsler, Mark J Bolland, Ian Reid, Johann Willeit, Georg Schett, Peter Santer, Reecha Sofat, Julie Taylor, Caroline Dale, Richard L Prince, Yoav Ben-Shlomo, John Gallacher, Gorm B Jensen, Ruth Frikke-Schmidt, Stig Egil Bojesen, Marianne Benn, Anders B Wulff, Signe V Krogh, Louise Lind Schierbeck, Stephen Kaptoge, Nicholas Wareham, Ben Schöttker, Anna Zhu, Bernd Holleczek, Elaine Dennison, Karen Jameson, Stefanie Schulze Schleithoff, Sabine Frisch, Allan Linneberg, Tea Skaaby, Line Lund Kårhus, Renate T de Jongh, Marjolein Visser, Harald Dobnig, Cassianne Robinson-Cohen, David S Siscovick, Bryan R Kestenbaum, Alex McConnachie, Naveed Sattar, David Morrison, Annamari Lundqvist, Peggy M Cawthon, Juan R Albertorio, J Wouter Jukema, Stella Trompet, Patricia Kearney, Marcus Dörr, Henry Völzke, Matthias Nauck, Peggy M Cawthon, Peter Rossing, Frederik Persson, Jukka Marniemi, Victoria Vazquez, Johan Sundström, Ulf Risérus, Karl Michaëlsson, Jonathan Emberson, David Leon, Mika Kivimäki

27 October 2021

Summary

Research has shown a link between higher vitamin D levels and lower mortality risk. However, the link was only observed in people who are vitamin D deficient.

Participants were compared based on their genetic make-up, suggest that taking vitamin D supplements will reduce mortality risk for those with low levels of vitamin D.

Publication: Therapeutic Advances in Musculoskeletal Disease

Michael Barnes, Sarah Brockbank, Ian N Bruce, Coziana Ciurtin, Andrew P. Cop, Michael R. Ehrenstein, Paul Emery, Benjamin A. Fisher, John Isaacs, Ruth Matthews, Iain B. McInnes, Hayley Noble, Ayako Wakatsuki Pedersen, Costantino Pitzalis, Karim Raza, Anthony Rowe, Gemma Simpson, Dominic Stringer, Peter C. Taylor, Brian Tom, Yujie Zhong

Publication: The Lancet Oncology

Elizabeth K Bancroft, Elizabeth C Page, Mark N Brook, Sarah Thomas, Natalie Taylor, Jennifer Pope, Jana McHugh, Ann-Britt Jones, Questa Karlsson, Susan Merson, Kai Ren Ong, Jonathan Hoffman, Camilla Huber, Lovise Maehle, Eli Marie Grindedal, Astrid Stormorken, D Gareth Evans, Jeanette Rothwell, Fiona Lalloo, Angela F Brady, Marion Bartlett, Katie Snape, Helen Hanson, Paul James, Joanne McKinley, Lyon Mascarenhas, Sapna Syngal, Chinedu Ukaegbu, Lucy Side, Tessy Thomas, Julian Barwell, Manuel R Teixeira, Louise Izatt, Mohnish Suri, Finlay A Macrae, Nicola Poplawski,  Rakefet Chen-Shtoyerman, Munaza Ahmed, Hannah Musgrave, Nicola Nicolai, Lynn Greenhalgh,  Carole Brewer, Nicholas Pachter, Allan D Spigelman, Ashraf Azzabi, Brian T Helfand, Dorothy Halliday, Saundra Buys, Teresa Ramon y Cajal, Alan Donaldson, Kathleen A Cooney, Marion Harris, John McGrath, Rosemarie Davidson, Amy Taylor, Peter Cooke, Kathryn Myhill, Matthew Hogben, Neil K Aaronson, Audrey Ardern-Jones, Chris H Bangma,  Elena Castro, David Dearnaley, Alexander Dias, Tim Dudderidge, Diana M Eccles, Kate Green, Jorunn Eyfjord, Alison Falconer, Christopher S Foster, Henrik Gronberg, Freddie C Ha y, Oskar Johannsson, Vincent Khoo, Hans Lilja, Geoffrey J Lindeman, Jan Lubinski, Karol Axcrona, Christos Mikropoulos, Anita V Mitra, Clare Moynihan, Holly Ni Raghallaigh, Gad Rennert, Rebecca Collier, Judith Offman, Zsofia Kote-Jarai, Rosalind A Eeles,

19 October 2021

Summary

Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and endometrial cancer. Data are emerging that pathogenic variants in mismatch repair genes increase the risk of early-onset aggressive prostate cancer. The IMPACT study is prospectively assessing prostate-specific antigen (PSA) screening in men with germline mismatch repair pathogenic variants.

Publication: Cancer Research

Ramona Woitek, Mary McLean , Stephan Ursprung, Oscar M Ruedae, Raquel Manzano Garcia, Matthew Locke, Lucian Beer, Gabrielle Baxter, Leonardo Rundo, Elena Provenzano , Joshua Kaggie , Andrew Patterson, Amy Frarya, Johanna Field-Raynera,b , Vasiliki Papalouka , Justine Kaneg, Arnold Benjamin, Andrew B Gill , Andrew Priest , David Lewis, Roslin Russell, Ashley Grimmera, , Brian Whitea , Beth Latimer-Bowmana, , Ilse Patterson, Amy Schiller , Bruno Carmo , Rhys Slough , Titus Lanzk , James Wason, Rolf Schultel, Suet-Feung Chine, Martin J Graves, Fiona J Gilbert, Jean E Abraham, Carlos Caldase, Kevin M Brindle , Evis Sala Ferdia A Gallagher

8 October 2021

Summary

Hyperpolarised carbon-13 MRI was used to detect response to neoadjuvant chemotherapy in patients with early breast cancer around one week after the start of treatment.

Publication: International Journal of Obesity

Tim Lindsay, Katrien Wijndaele, Kate Westgate, Paddy Dempsey, Tessa Strain, Emanuella De Lucia Rolfe, Nita G. Forouhi, Simon Griffin, Nick J. Wareham & Søren Brage

30 September 2021

Summary

Physical activity energy expenditure (PAEE) represents the total volume of all physical activity. Although volume and intensity have been studied in isolation, less is known about their joint association with health.

Researchers examined this association with body fatness in a population-based sample of middle-aged British adults in a large population-based cohort study with objective measures, PAEE was inversely associated with body fatness.

Publication: New England Journal of Medicine

Edson Mendes de Oliveira, Julia M. Keogh, Fleur Talbot, Elana Henning, Rachel Ahmed, Aliki Perdikari, Rebecca Bounds, Natalia Wasiluk, Vikram Ayinampudi, Inês Barroso, Jacek Mokrosiński,  Deepthi Jyothish, Sharon Lim, Sanjay Gupta, Melanie Kershaw, Cristina Matei,  Praveen Partha, Tabitha Randell, Antoinette McAulay, Louise C. Wilson, Tim Cheetham, Elizabeth C. Crowne, Peter Clayton, and I. Sadaf Farooqi,

06 October 2021

Summary

Single-gene disorders that involve mendelian inheritance are individually rare, but collectively they account for 1 in 100 births. Although genetic testing has traditionally been informed by clinical characteristics, next-generation sequencing now permits the unbiased testing of multiple genes.

This study involved a subgroup of patients with severe obesity and in whom mutations in known obesity genes had been ruled out. Researchers performed exome sequencing and targeted resequencing.

Publication: BMC Infectious Diseases

Yogini V. Chudasama, Francesco Zaccardi, Clare L. Gillies, Cameron Razieh, Thomas Yates, David E. Kloecker, Alex V. Rowlands, Melanie J. Davies, Nazrul Islam, Samuel Seidu, Nita G. Forouhi & Kamlesh Khunti

4 September 2021

Summary

Pre-existing comorbidities (presence of one or more additional conditions usually occurring with a main health condition) have been linked to SARS-CoV-2 infection but evidence is sparse on the importance and pattern of multimorbidity (2 or more conditions) and severity of infection indicated by hospitalisation or mortality.

Researchers aimed to use a multimorbidity index developed specifically for COVID-19 to investigate the association between multimorbidity and risk of severe SARS-CoV-2 infection. The multimorbidity index may help identify individuals at higher risk for severe COVID-19 outcomes and provide guidance for tailoring effective treatment.

Publication: Nature Medicine

Ittai Dayan, Holger R. Roth, Aoxiao Zhong, Ahmed Harouni, Amilcare Gentili, Anas Z. Abidin, Andrew Liu, Anthony Beardsworth Costa, Bradford J. Wood, Chien-Sung Tsai, Chih-Hung Wang, Chun-Nan Hsu, C. K. Lee, Peiying Ruan, Daguang Xu, Dufan Wu, Eddie Huang, Felipe Campos Kitamura, Griffin Lacey, Gustavo César de Antônio Corradi, Gustavo Nino, Hao-Hsin Shin, Hirofumi Obinata, Hui Ren, Jason C. Crane, Jesse Tetreault, Jiahui Guan, John W. Garrett, Joshua D. Kaggie, Jung Gil Park, Keith Dreyer, Krishna Juluru, Kristopher Kersten, Marcio Aloisio Bezerra Cavalcanti Rockenbach, Marius George Linguraru, Masoom A. Haider, Meena AbdelMaseeh, Nicola Rieke, Pablo F. Damasceno, Pedro Mario Cruz e Silva, Pochuan Wang, Sheng Xu, Shuichi Kawano, Sira Sriswasdi, Soo Young Park, Thomas M. Grist, Varun Buch, Watsamon Jantarabenjakul, Weichung Wang, Won Young Tak, Xiang Li, Xihong Lin, Young Joon Kwon, Abood Quraini, Andrew Feng, Andrew N. Priest, Baris Turkbey, Benjamin Glicksberg, Bernardo Bizzo, Byung Seok Kim, Carlos Tor-Díez, Chia-Cheng Lee, Chia-Jung Hsu, Chin Lin, Chiu-Ling Lai, Christopher P. Hess, Colin Compas, Deepeksha Bhatia, Eric K. Oermann, Evan Leibovitz, Hisashi Sasaki, Hitoshi Mori, Isaac Yang, Jae Ho Sohn, Krishna Nand Keshava Murthy, Li-Chen Fu, Matheus Ribeiro Furtado de Mendonça, Mike Fralick, Min Kyu Kang, Mohammad Adil, Natalie Gangai, Peerapon Vateekul, Pierre Elnajjar, Sarah Hickman, Sharmila Majumdar, Shelley L. McLeod, Sheridan Reed, Stefan Gräf, Stephanie Harmon, Tatsuya Kodama, Thanyawee Puthanakit, Tony Mazzulli, Vitor Lima de Lavor, Yothin Rakvongthai, Yu Rim Lee, Yuhong Wen, Fiona J. Gilbert, Mona G. Flores & Quanzheng Li

15 September 2021

Summary

In collaboration with 20 centres across the world, including Harvard and Nvidia, researchers ‘federate’ machine learning to improve the prediction of covid based on chest x-rays. This method allows use to show results without sharing patient data. Read the full press release.

Publication: European Urology

David Thurtle, Val Jenkins, Alex Freeman, Mike Pearson, Gabriel Recchia, Priya Tamer, Kelly Leonard, Paul Pharoah, Jonathan Aning, Sanjeev Madaanh, Chee Goh,  Serena Hilman, Stuart McCracken, Petre Cristian, lie, Henry Lazarowicz, Vincent Gnanapragasam

4 September 2021

Summary

Predict Prostate is a Cambridge developed and validated risk communication tool for men with a new prostate cancer diagnosis. It is a CE marked web tool and endorsed by NICE. In this multicentre RCT national study, researchers assessed the impact of this individualised risk communication tool, on patient decision-making after a diagnosis of localised prostate cancer.

Men were randomly assigned to two groups, which received either standard counselling and information, or this in addition to a structured presentation of the Predict Prostate tool. Men who saw the tool were less conflicted and uncertain in their decision-making, and recommended the tool highly. Those who saw the tool had more realistic perception about their long-term survival and the potential impact of treatment upon this.

Publication: Journal of Parkinson's Disease

Roger Barker, Danielle Daft, Emma Cutting

01 April 2021

Summary

This is an opinion article on the use of advanced therapy medicinal products in Parkinson’s disease, and how they can be taken into the clinic.

Publication: Journal of Neurotrauma

Jeanette Tas, Erta Beqiri, Ruud C. van Kaam, Marek Czosnyka, Joseph Donnelly, Roel H. Haeren, Iwan C.C. van der Horst, Peter J. Hutchinson, Sander M.J. van Kuijk, Analisa L. Liberti, David K. Menon, Cornelia W.E. Hoedemaekers, Bart Depreitere, Peter Smielewski, Geert Meyfroidt, Ari Ercole, and Marcel J.H. Aries

16 August 2021

Summary

It is increasingly recognised that patients with traumatic brain injury (TBI) may benefit from individualised clinical management. Cerebral autoregulation (CA) may allow for maintaining cerebral blood flow for adequate energetic requirements in response to changes in mean arterial pressure (MAP), by means of vasoconstriction (the narrowing (constriction) of blood vessels by small muscles in their walls) and vasodilation (widening of blood vessels).

Publication: BMJ Journal of Medical Genetics

Laurene Ben Aim,  Eamonn R Maher, Alberto Cascon, Anne Barlier, Sophie Giraud, Tonino Ercolino, Pascal Pigny, Roderick J Clifton-Bligh, Delphine Mirebeau-Prunier, Amira Mohamed, Judith Favier, Anne-Paule Gimenez-Roqueplo, Francesca Schiavi, Rodrigo A Toledo, Patricia L Dahia, Mercedes Robledo, Jean Pierre Bayley Nelly Burnichon,

31 August 2021

Summary

A total of 223 distinct SDHB variants from 737 patients were collected worldwide. Using multiple criteria, each variant was first classified according to a 5-tier grouping based on American College of Medical Genetics and NGSnPPGL standardised recommendations and was then manually reviewed by a panel of experts in the field

Publication: Metabolites

Nancy McBride, Paul Yousefi, Ulla Sovio, Kurt Taylor, Yassaman Vafai, Tiffany Yang, Bo Hou, Matthew Suderman, Caroline Relton,  Gordon C. S. Smith, Deborah A. Lawlor

10 August 2021

Summary

Many women who experience gestational diabetes (GDM), gestational hypertension (GHT), pre-eclampsia (PE), have a spontaneous preterm birth (sPTB) or have an offspring born small/large for gestational age (SGA/LGA) do not meet the criteria for high-risk pregnancies based upon certain maternal risk factors. The aim of this study was to assess the predictive ability of an untargeted platform of over 700 metabolites to predict the above pregnancy-related disorders in two cohorts.

Publication: The Journal of Nutrition

Kerry S Jones, Sarah R Meadows, Karen Chamberlain, Damon A Parkington, Dave Collins, Polly Page, Albert Koulman

26 August 2021

Summary

Publication: Journal of Clinical Psychopharmacology

Fernandez-Egea, Emilio; Chen, Shanquan; Jenkins, Christopher; Turrion, Concha; Mitchell, Simon P.; Dodwell, David J. F.; Mann, Louisa M.; Deakin, Julia B.; Syed, Zahoor H.; Hafizi, Sepehr; Zimbron, Jorge; Praseedom, Asha S.; Cardinal, Rudolf N.

17 June 2021

Summary

Factors associated with sedation and its pharmacological management remain poorly studied.  Researchers conducted a retrospective cohort study based on deidentified electronic clinical records of clozapine-treated patients from the secondary mental health care provider for Cambridgeshire and Peterborough, United Kingdom.

Publication: Nature Medicine

Na Cai, Aurora Gomez-Duran, Ekaterina Yonova-Doing, Kousik Kundu, Annette I. Burgess, Zoe J. Golder, Claudia Calabrese, Marc J. Bonder, Marta Camacho, Rachael A. Lawson, Lixin Li, Caroline H. Williams-Gray, Emanuele Di Angelantonio, David J. Roberts, Nick A. Watkins, Willem H. Ouwehand, Adam S. Butterworth, Isobel D. Stewart, Maik Pietzner, Nick J. Wareham, Claudia Langenberg, John Danesh, Klaudia Walter, Peter M.Rothwell, Joanna M. M. Howson, Oliver Stegle, Patrick F. Chinnery & Nicole Soranzo

23 August 2021

Summary

Researchers have identified associations between mtDNA variants and an amino acid, N-formylmethionine (fMet), and effects of fMet on the risk of developing a range of common, late-onset illnesses. Read the full story.

Publication: International Journal of Geriatric Psychiatry

Chen S, Jones PB, Underwood BR, Fernández-Egea E, Qin P, Lewis JR, Cardinal RN

11 August 2021

Summary

Researchers studied patients over 65 known to CPFT mental health services during the early COVID-19 pandemic, and historical control groups (people known to have acquired COVID-19 itself did not take part). During lockdown, people with dementia or severe mental illness had a higher risk of death without confirmed COVID-19.

Publication: Nature Medicine

Charlotte K. Boughton, Afroditi Tripyla, Sara Hartnell, Aideen Daly, David Herzig, Malgorzata E. Wilinska, Cecilia Czerlau, Andrew Fry, Lia Bally & Roman Hovorka 

04 August 2021

Summary

An artificial pancreas could soon help people living with type 2 diabetes and who also require kidney dialysis. Tests led by the University of Cambridge and Inselspital, University Hospital of Bern, Switzerland show that the device can help patients safely and effectively manage their blood sugar levels and reduce the risk of low blood sugar levels. Read the full press release.

Publication: International Journal of Behavioral Nutrition and Physical Activity

Matthew Pearce, Tessa Strain, Katrien Wijndaele, Stephen J. Sharp, Alexander Mok & Søren Brage

27 July 2021

Summary

Current physical activity guidelines do not distinguish between activity accumulated in different behavioural domains but some studies suggest that occupational physical activity (OPA) may not confer health benefits and could even be detrimental. The purpose of this study was to investigate associations between OPA and mortality outcomes.