Publication: Nature Genetics

Foad J. Rouhani, Xueqing Zou, Petr Danecek, Cherif Badja, Tauanne Dias Amarante, Gene Koh, Qianxin Wu, Yasin Memari, Richard Durbin, Inigo Martincorena, Andrew R. Bassett, Daniel Gaffney & Serena Nik-Zainal

11 August 2022

Summary

DNA damage caused by factors such as ultraviolet radiation affect nearly three-quarters of all stem cell lines derived from human skin cells, say Cambridge researchers, who argue that whole genome sequencing is essential for confirming if cell lines are usable. Read the full news story.

Publication: MedRxiv

Natalie E Adams, Amirhossein Jafarian, Alistair Perry, Matthew Rouse, Alexander D Shaw, Alexander G Murley,   Thomas E Cope, W Richard Bevan-Jones, Luca Passamonti, Duncan Street, Negin Holland, David Nesbitt, Laura E Hughes,   Karl J Friston, James RoweNatalie E Adams, Amirhossein Jafarian, Alistair Perry, Matthew Rouse,   Alexander D Shaw, Alexander G Murley, Thomas E Cope, W Richard Bevan-Jones, Luca Passamonti, Duncan Street,   Negin Holland, David Nesbitt, Laura E Hughes, Karl J Friston, James Rowe

23 June 2022

Summary

Synaptic loss occurs early in many neurodegenerative diseases and contributes to cognitive impairment even in the absence of gross atrophy. Currently, for human disease there are few formal models to explain how cortical networks underlying cognition are affected by synaptic loss. Researchers advocate that biophysical models of neurophysiology offer both a bridge from clinical to preclinical models of pathology, and quantitative assays for experimental medicine.

Publication: BMJ Open

Christian Philip Stickels, Ramesh Nadarajah, Chris P Gale, Houyuan Jiang, Kieran J Sharkey, Ben Gibbison, Nick Holliman, Sara Lombardo, Lars Schewe, Matteo Sommacal, Louise Sun, Jonathan Weir-McCall, Katherine Cheema, James H F Rudd, Mamas Mamas, Feryal Erhun

17 June 2022

Summary

An international team of researchers has modelled the impact that increasing treatment capacity and using a quicker, less invasive treatment option would have on waiting lists. Even in the best-case scenario, they found that the waiting list would take nearly a year to clear.

The traditional treatment for aortic stenosis involves replacing the narrowed valve, most commonly through open heart surgery (a surgical aortic valve replacement, SAVR). However, a newer keyhole procedure called a transcatheter aortic valve implantation (TAVI) is increasingly being used and is now recommended for patients aged 75 and over.

The researchers investigated the impact that increasing treatment capacity and converting a proportion of operations to the quicker TAVI procedure would have on the backlog. They looked at how long it would take to clear the backlog and found that the best and most achievable option involved a combination of increasing capacity by 20 per cent and converting 40 per cent of procedures from SAVR to TAVI. This would clear the backlog within 343 days with 784 deaths while people wait for treatment. Read the full story.

Publication: Nature Communications Biology

Irving L. M. H. Aye, Sungsam Gong, Giulia Avellino, Roberta Barbagallo, Francesca Gaccioli, Benjamin J. Jenkins, Albert Koulman, Andrew J. Murray, D. Stephen Charnock-Jones & Gordon C. S. Smith

15 June 2022

Summary

Placental function and dysfunction differ by sex but the mechanisms are unknown. Researchers show that sex differences in polyamine metabolism are associated with escape from X chromosome inactivation of the gene encoding spermine synthase (SMS).

Publication: bioRxiv

Roma Siugzdaite,  Danyal Akarca, Amy Johnson,  Sofia Carozza,  Alexander L Anwyl-Irvine,  Stepheni Uh,  Tess Smith, Giacomo Bignardi,  Edwin Dalmaijer,  Duncan E. Astle

10 June 2022

Summary

The quality of a child’s social and physical environment is a key influence on brain development, educational attainment and mental wellbeing. However, there still remains a mechanistic gap in our understanding of how environmental influences converge on changes in the brain’s developmental trajectory. In a sample of 145 children with structural diffusion tensor imaging data, researchers used generative network modelling to simulate the emergence of whole brain network organisation.

Publication: Patterns 3: 100506.

Soumya Banerjee, Phil Alsop, Linda Jones, Rudolf N. Cardinal

10 June 2022

Summary

Artificial intelligence (AI) is increasingly taking on a greater role in healthcare. However, hype and negative news reports about AI abound. Integrating patient and public involvement (PPI) in healthcare AI projects may help in adoption and acceptance of these technologies. Researchers argue that AI algorithms should also be co-designed with patients and healthcare workers. They specifically suggest (1) including patients with lived experience of the disease, and (2) creating a research advisory group (RAG) and using these group meetings to walk patients through the process of AI model building, starting with simple (e.g., linear) models.

Publication: International Journal of Epidemiology

Michelle Venables, Caireen Roberts, Kerry Jones, Anila Farooq, Albert Koulman, Nick Wareham, Polly Page

28 May 2022

Since 2008, the Government in the United Kingdom has funded a large, annual survey called the National Diet and Nutrition Survey Rolling Programme (NDNS RP) to collect detailed information from people on the foods they are eating and their nutritional health.

The survey is used to monitor how well the UK population is doing in terms of dietary guidelines and inform the development of new nutrition policies. It is also used to monitor chemical exposure risk to protect food safety. In this NIHR Cambridge BRC paper, the authors have provided easy access to comprehensive information about the NDNS for the academic and wider public health community.

The paper describes the data collected in the first 11 years of the NDNS RP, how it has been used, and demonstrates the scope of publicly available data. The authors present an overview of survey methods to collect and analyse the data.

Between 2008 and 2019, 7999 adults and 7656 children completed food diaries; 4181 adults and 2014 children had a blood sample taken; 3246 adults and 2318 children gave a urine sample and 419 adults and 352 children had their energy expenditure measured. The authors explain how NDNS survey reports and data provide information on the foods, calories and nutrients such as fat, sugar and vitamins consumed by the UK population, and how Government use these data in public health campaigns such as the Change4Life, 5 A DAY and sugar reduction and folate fortification policies.

They also highlight that many other institutions and individuals use the survey including international organisations like the World Health Organisation. Reports are published regularly by Government: https://www.gov.uk/government/collections/national-diet-and-nutrition-survey. Anonymised individual data can be accessed from the Data Service and stored blood and urine samples are available for further research via the NDNS Bioresource.

The NDNS RP provides a unique and valuable publicly available resource for the UK Government, researchers, health professionals and others looking to understand and improve population health and nutrition.

Publication: Nature Neuroscience

Andrea I. Luppi, Pedro A. M. Mediano, Fernando E. Rosas, Negin Holland, Tim D. Fryer, John T. O’Brien, James B. Rowe, David K. Menon, Daniel Bor & Emmanuel A. Stamatakis

26 May 2022

Researchers investigated functional interactions between brain regions into synergistic and redundant components, revealing their information-processing roles.

Publication: HGG Advances

Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti, Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair, Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H.Rowitch, LucyRaymond

24 May 2022

Summary

More than a third of severely sick babies referred for rapid whole genome sequencing received a vital genetic diagnosis. Results from the latest Cambridge genomic study supported by NIHR Cambridge BRC and NIHR BioResource, confirm rapid whole genome sequencing (WGS) as an effective early test to aid diagnosis in severely ill children. Read the full story. 

Publication: JAMA Pediatrics

Soren Brage

23 May 2022

This was a randomised controlled trial examining the effect of restricting screen use in 89 families living in Denmark. Children in intervention families reduced their objectively measured sedentary time by 45 min/day, which was significantly more than the 1 min/day increase observed in children from control families.

Publication: Journal of Telemedicine and Telecare

Albert Koulman, Kirsten L Rennie, Damon Parkington, Nicholas J Wareham

10 May 2022

The ability to collect a blood sample painlessly from people at home without the need of a healthcare worker visit could transform the way healthcare and health research are conducted. We demonstrated that a new device (OneDraw) could be successfully used by people in their own homes to collect a dried blood spot sample and be posted back using the normal postage system to the laboratory.

After demonstrating the method worked, it was used in the Fenland COVID-19 study where 10,647 samples were collected every 3-months in over 3,000 participants to measure whether COVID-19 antibodies were present in the blood. This was used to calculate the proportion of participants who had a past COVID-19 infection, with or without symptoms. A high proportion of participants were able to collect their own blood samples (89-93% at each timepoint) and almost all samples received were successfully processed (99.9%).

The COVID-19 pandemic has rapidly increased the adoption of “telehealth” where people communicate online and via the telephone with their healthcare teams and in health research. However, the gap has been how to collect blood samples remotely. During the early phases of the pandemic when home visits were not possible, the only feasible option was for people to take their own blood sample. This usually involves pricking a finger with a lancet and dropping blood onto special paper or into a blood tube. However, many people find this painful and the sample cannot always be reliably used for analysis due to contamination or insufficient blood sample.

This study showed that dried blood spot samples from the OneDraw device produced comparable results for assessing COVID-19 antibodies as standard blood samples taken by a needle in the arm by a trained healthcare worker. Participants also preferred the OneDraw device to the other methods and reported lower pain scores. Due to its ease of use and acceptability, the OneDraw device will be particularly useful for future telehealth applications, for example where people cannot travel to a clinical centre and repeat blood samples may be needed.

Publication: The Journal of Clinical Endocrinology & Metabolism

Ulla Sovio, Gemma L Clayton, Emma Cook, Francesca Gaccioli, D Stephen Charnock-Jones, Deborah A Lawlor, Gordon C S Smith

18 April 2022

Summary

Currently in the UK, women are selected for diagnostic testing for Gestational Diabetes Mellitus (GDM) based on risk factors such as obesity.  Researchers developed a new predictive test for GDM using metabolomic markers from maternal serum samples, measured at multiple stages of pregnancy. The test was developed using samples from the Pregnancy Outcome Prediction (POP) study and it was externally validated in maternal plasma samples from a demographically highly dissimilar Born in Bradford (BiB) study. Further assessment in the POP study suggested that the predictive ability of a model including the metabolomic markers was clearly better compared to using early pregnancy obesity alone.