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A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.

Women of reproductive age may have specific concerns relating to perceived impacts on fertility and menstrual cycles that make them hesitant to receive COVID-19 vaccination. In this study, the authors explore COVID-19 vaccine uptake rates in women of reproductive age using linked data for ~13 million women in England.

Here the authors perform a trans expression quantitative trait locus meta-analysis study of over 3,700 people and link a USP18 variant to expression of 50 inflammation genes and lupus risk, highlighting how genetic regulation of immune responses drives autoimmune disease and informs new therapies.

Here the authors develop a novel statistical method for quantifying mutation burden from whole genome sequencing data and use it to discover the genetic, genomic, and phenotypic correlates of clonal hematopoiesis without known driver genetic lesions.

New modeling shows that explosive volcanic eruptions on Mars could have repeatedly delivered ice to the equator, pointing to a volcanic origin for the mysterious excess hydrogen in the planet’s shallow equatorial surface.

Skin prick testing for allergy diagnosis is limited by variability due to differences in test setting and operator expertise. Here, the authors develop and validate an AI-assisted readout method for reading allergy skin test results, and find that integrating AI enhances standardization throughout the skin prick testing process.

This study demonstrates that guanfacine immediate release enhances cognitive control circuit function and behavioral performance in a neurobiologically defined cognitive biotype of depression, achieving a 76.5% clinical response rate and improving life satisfaction, marking a promising advance in precision medicine.

The authors conducted prospective multimodal monitoring of simultaneous brain and heart function to define physiological changes during the human dying process leading to circulatory arrest.

Scanning dielectric microscopy of nanocapillaries filled with water reveals that interfacial and strongly confined water exhibits a large in-plane dielectric constant and an in-plane conductivity approaching superionic values. 

Khawaja et al. show sex-specific differences in neuronal-activity regulation by chaperone-mediated autophagy and that loss of chaperone-mediated autophagy leads to defective neuronal physiology and increased seizure susceptibility, linking chaperone-mediated autophagy to neuronal excitability.

Using data from the CoVPN 3008 study, the authors show that the neutralizing antibody correlate of risk holds in people living with HIV. However, the nAb correlate was weaker and shorter-lived in a vaccine-immunity versus hybrid-immunity population.

This study shows that C9orf72 mutations impair immune activation in ALS, affecting how brain cells communicate, and highlights key differences in the cellular and molecular pathways underlying sporadic and genetic forms of the disease.

Prime editing is a CRISPR methodology whose efficiency declines with distance from the target sequence. Here the authors demonstrate prime editing with prolonged editing window, proPE, which extends the editing distance, enabling the use of prime editing for therapeutic interventions.

Polygenic risk scores can help identify individuals at higher risk of type 2 diabetes. Here, the authors characterise a multi-ancestry score across nearly 900,000 people, showing that its predictive value depends on demographic and clinical context and extends to related traits and complications.

Robotics and electrical stimulation offer complementary benefits in neurorehabilitation. Here, the authors show that a hybrid ES-exoskeleton enables overground gait with minimal setup and therapist effort and reduces motor demand.

Here the authors map the dynamics of human NK cell residency and recirculation, showing that CD56^bright NK cells transiently occupy tissues and recirculate via lymphatics, whereas CD56^dim NK cells remain vascular except during inflammation.

Creative experiences such as dance, music, drawing, and strategy video games might preserve brain health. The authors show that regular practice or short training in these activities is linked to brains that look younger and work more efficiently.

A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables epidemiological-scale studies of somatic mutation and selection and the generation of high-resolution selection maps across coding and non-coding sites for many genes.

Results from the randomized, noncomparative, phase 2 MATISSE trial show that ultra-short neoadjuvant therapy with ipilimumab and nivolumab can prevent surgery and radiotherapy in patients with resectable cutaneous squamous cell carcinoma, with an early decrease in total lesion glycolysis by [¹⁸F]FDG-PET/CT associated with response.

This study shows that hippocampal and entorhinal connectivity patterns drift over time in humans, providing a spontaneous neural signature of elapsed time that follows functional gradients and reveals network-specific contributions to temporal coding.

Head and neck squamous cell carcinoma (HNSCC) frequency and risk factors vary considerably across regions and ancestries. Here, the authors conduct a multi-ancestry genome-wide association study and fine mapping study of HNSCC subsites in cohorts from multiple continents, finding susceptibility and protective loci, gene-environment interactions, and gene variants related to immune response.

Polygenic scores for body mass index and obesity constructed using data from 5 million people with different ancestries were associated with distinct weight gain trajectories from early childhood to adulthood.

The authors report a 1-input-8-ouput superconducting demultiplexer consisting of 14 Al-InAs-Al Josephson Field Effect Transistors, enabling time-division multiplexing of non-dissipative current up to several GHz. This strategy can reduce the number of I/O lines to drive cryogenic electrical devices in quantum applications.

The International Brain Laboratory presents a brain-wide electrophysiological map obtained from pooling data from 12 laboratories that performed the same standardized perceptual decision-making task in mice.

TFE3-fusions are known to drive both epithelial and mesenchymal renal tumors. Here, the authors generate a transgenic mouse model of renal tumorigenesis expressing the human SFPQ-TFE3 fusion, showing that the fusion regulates mTORC1 activity and induces lineage plasticity.

Indonesian cattle are unique due to their history of admixture involving both zebu and banteng. Here, Wang et al. identify ~3.5 million novel introgressed SNP variants and provide a genomic map of banteng introgression within and across many cattle breeds, each with unique introgression histories.

A modularized open-source pipeline for invasive brain signal decoding bridges the gap between closed-loop neuromodulation and clinical brain–computer interface approaches in a large patient cohort.

In B-cells, super-silencers originally help activate important genes during early development. Later, they switch roles and become powerful silencers in mature B cells. Super-silencers help control gene activity in healthy B-cells, but when they malfunction or mutate, they may drive the development of B-cell cancers. In healthy, mature B cells, super-silencers keep developmental genes switched off to maintain cell identity. When disrupted by mutation or malfunction, these elements can reverse their role and contribute to the development of B-cell cancers.

Border and colleagues present FUSION, an open-source, web-based platform designed to integrate spatial omics with histological context. FUSION enables intuitive, interactive exploration of cellular and tissue-level features across diverse organs and assay types.

Here the authors use a range of approaches to examine the interplay between genetic variants linked to risk for polygenic skin diseases and transcription factors (TFs) important for skin homeostasis. The findings implicate dysregulated binding of specific TF families in risk for diverse skin diseases.

The number of individuals in a given space influences animal interactions and network dynamics. Here the authors identify general rules underlying density dependence in animal networks and reveal some fundamental differences between spatial and social dynamics.

Capsule-specific human monoclonal antibodies are protective against bloodstream infection by Klebsiella pneumoniae sequence type 147 in a mouse model of septicaemia, and could provide a useful strategy against pathogens with antimicrobial resistance.

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

A purpose-built implantable system based on biomimetic epidural electrical stimulation of the spinal cord reduces the severity of hypotensive complications in people with spinal cord injury and improves quality of life.

Mothers can fiercely defend their young, but how the brain triggers this response remains to a large extent a mystery. Here, authors show that a dormant, hormone-sensitive brain circuit switches on to spark maternal aggression during the lactation period.

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Brain-wide recordings in mice reveal that prior expectations are distributed through recurrent loops across all levels of cortical and subcortical processing.

A positional and developmentally regulated cell cycle duration gradient exists in the root meristem whereby the G1 phase is very long close to the stem cell niche. This relies on the interplay of PLETHORA with the RETINOBLASTOMA-RELATED pathway.

The origin of timber was correctly identified for 94% of samples in Central Africa, a high-risk region with low tracing accuracy to date, according to an analysis that combined genetic, stable isotopes, and elemental concentrations methods.

A mass spectrometry-based approach globally identifies protein regulators of metabolism and reveals the role of LRRC58 in controlling cysteine catabolism.

It has recently been shown that synaptic transmission delays enhance the computational capabilities of spiking neural networks. In this manuscript, the authors introduce an exact, event-based training method for various types of delays and benchmark it on mixed-signal neuromorphic hardware.

Ventures focusing on gene therapy, adoptive T-cell therapy, protein homeostasis and the microbiome are among those selected by the editors in 2013's crop of startups.

Beck et al. develop a model where striosomes create a flexible “decision-space” that adapts to environmental context and internal state. It explains how we make choices and why decision-making varies between people, and in neuropsychiatric disorders.

Heller et al. showed dense longitudinal imaging in four females, including one with endometriosis and one using oral contraceptives, and the finding that different hormonal milieus influence widespread brain volume changes linked to progesterone or estradiol.

Using well-calibrated statistical methods the authors jointly analyze Undiagnosed Diseases Network genomes, identifying known and novel disease genes. Software is publicly available to support future cross-cohort rare disease discovery efforts.

By studying dynamic folding intermediates on the human ribosome, Pellowe et al. show that newly made domains help each other to fold but do not stably interact until synthesis is complete, avoiding interdomain misfolding.

Beyond its known role in stabilizing microtubules, it is now shown that tau protein actively promotes lattice defect repair by enhancing tubulin turnover at topological defects.