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The authors identify a Cys→Ser transformation (C19S) in insulin leading to neoepitope presentation and CD4⁺ T cell autoreactivity in type 1 diabetes. Inflammation and oxidative stress enhanced C19S transformation in β cells and antigen-presenting cells, resulting in C19S-specific CD4⁺ T cells with an activated memory phenotype linked to disease progression.

Life-cycle assessment of biofuel carbon emissions does not usually take into account the potential for soil carbon loss resulting from crop residue removal. Now estimates of CO₂ emissions due to corn residue removal across the US Corn Belt indicate that the emissions from soil carbon loss could push total emissions above the US legislative mandate.

Andrew Robinson reviews five of the week’s best science picks.

Mendelian randomization (MR) identifies causal relationships from observational data but has increased error rates when the genetic variants used as instruments come from a single region, a typical scenario when assessing molecular traits like protein or metabolite levels as risk factors. Here the authors introduce a single-region pleiotropy-robust MR method, validating the method on three ground truth sources, showing its capability to identify disease-causing molecular traits.

Nprl3 controls erythroblast metabolism and is upregulated by α -globin enhancers sited within its introns. This arrangement couples metabolic and developmental control during erythropoiesis and may explain the ancient synteny of α -globin with Nprl3.

Andrew Robinson reviews five of the week’s best science picks.

The authors mapped the dendritic morphology of thousands of striatal D1-type and D2-type medium spiny neurons in healthy and Huntington’s disease mouse brains, revealing dendritic modules with distinct neuronal shapes, spatial distributions and cortical inputs.

Paneth cell metaplasia (PCM) typically arises in diseases intrinsic to the gastrointestinal tract; however, whether extra intestinal diseases can trigger PCM and the mechanistic pathway by which PCM develops is unknown. Herein, the authors show in an inducible murine model of chronic myelogenous leukaemia that a systemic inflammatory state can trigger IL-33- mediated IL-9 production that leads to small intestinal remodelling and PCM.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive dementia. No clinical blood tests are available for diagnosis. The authors identified three miRNAs in whole-blood that are downregulated in sCJD patients, and discriminate sCJD from Alzheimer’s disease patients and healthy controls.

Exome sequencing and copy number analysis are used to define genomic aberrations in early sporadic pancreatic ductal adenocarcinoma; among the findings are mutations in genes involved in chromatin modification and DNA damage repair, and frequent and diverse somatic aberrations in genes known as embryonic regulators of axon guidance.

This study reveals that an outer membrane protein from the predator Bdellovibrio bacteriovorus forms a pentameric assembly that traps a lipid monolayer within. This allows the discovery of two superfamilies, distributed across a wide range of bacteria, likely to adopt a similar architecture.

Large genome-wide meta-analysis of clinically diagnosed late-onset Alzheimer’s disease (LOAD) from 94,437 individuals identifies new LOAD risk loci and implicates Aβ formation, tau protein binding, immune response and lipid metabolism.

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Whole-genome sequencing and phenotype data sharing are introduced in a national health system to streamline diagnosis and to discover coding and non-coding variants that cause rare diseases.

Optimization is a promising application for quantum computing; however, progress is limited by the time needed to score candidate solutions using quantum hardware. Here, the authors show that a small number of hardware measurements can train a classical model to predict scores, substantially reducing the number of quantum evaluations.

The spatial distribution and parameters that affect soil microorganism communities are largely unknown. In this study, bacterial communities up to 240 metres apart are shown to be similar and are affected by soil pH, plant abundance and snow depth.

Metastatic castration-resistant prostate cancer is a highly aggressive disease, with a variable response to treatment. Here, the authors validate ctDNA fraction as a poor prognostic factor and develop a model to predict whether patients harbor sufficient ctDNA for informative blood-based genotyping.

Investigation of variation in three cohorts has identified multiple genetic signals associated with the pregnancy-specific liver disorder, intrahepatic cholestasis of pregnancy, giving insight into the disease which can cause preterm birth and stillbirth.

In 2014 Guangzhou, China experienced its worse dengue epidemic on record. To determine the reasons for this the authors model historical data under combinations of four time-varying factors and find that past epidemics were limited by one or more unfavourable conditions, but the 2014 epidemic faced none of these restraints.

Generalization - that is, the ability to extrapolate from training data to unseen data - is fundamental in machine learning, and thus also for quantum ML. Here, the authors show that QML algorithms are able to generalise the training they had on a specific distribution and learn over different distributions.

Here the authors identify TNIP1 as a risk factor for a fatal neurodegenerative disorder and discover specific genetic loci associated with the three main subtypes of this disorder. The findings highlight distinct disease mechanisms, emphasizing the roles of immunity and the notch signaling pathway.

Alien species of animals and plants can invade new regions of the earth. This study performs a global analysis of temporal dynamics and spatial patterns of alien species introductions over the past 200 years, and reports no saturation in the rate at which these invasion are increasing.

Knowledge of how a disease spreads can lead to useful predictions to help manage and contain it. Here, Maher et al.model white-nose syndrome spreading in North American bats, and show that concentrated habitat distribution and longer winters can mediate pathogen dispersal, matching the ecological traits of bats.

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

Identification of genes associated with resistance to hundreds of cancer therapeutics enabled the discovery of the serine hydrolases MGLL and CES1 as modifiers of sensitivity to GSK-J4 via direct enzymatic modification.

Irrigation is the most important use of water. A newly developed irrigation management scheme leads to a significant reduction in water use and increase in economic gains while maintaining crop yields, presenting opportunities for real-world impacts under current and future climate conditions.

Somatic mutations drive the clonal proliferation of myeloproliferative neoplasms. Here the authors conduct a genome-wide association study and identify germline variation at multiple loci associated with the development and disease phenotype of these cancers.

Cox and colleagues develop PXS-5505, a first-in-class selective pan-lysyl oxidase inhibitor and show that it reduces chemotherapy-induced desmoplasia and stiffness, thereby improving chemotherapy response and survival in pancreatic cancer models.

A whole-genome sequencing analysis of 100 pancreatic ductal adenocarcinomas has discovered known and newly identified genetic drivers of pancreatic cancer; these genetic alterations can be classified into four subtypes, which raises the possibility of improved targeting of clinical treatments.

During development, new arteries can arise from pre-existing veins; the cell fate switch involved occurs gradually and before the onset of blood flow in mouse embryo hearts.

Cyclone Ilsa made landfall on Bedout Island, off the coast of Western Australia, on April 13 2023 and killed 80-90% of seabirds of three species nesting on that island, according to an analysis of aerial and ground surveys of seabird populations in April, June and July 2023.