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Dysregulation of ribonucleoprotein complex granules, previously implicated in neuromuscular disease, can drive pathogenesis in a genetic form of dilated cardiomyopathy, as shown in gene-edited pigs and patient-derived cardiomyocytes.
Functionally competent memory CD8+ T cells specific for different viral epitopes are induced by SARS-CoV-2 infection and can be detected in the absence of virus-specific antibodies.
Polygenic risk scores are nearing a level of differentiation required for their clinical utility in risk prediction in populations with high-risk rare pathogenic genetic variants.
A universal method enables high-specificity, unbiased pathogen detection from diverse body fluids using metagenomic sequencing and may accelerate clinical decisions.
Scientists and health professionals must commit to preparing for the health effects of climate change through increased research, education and self-assessment.
Amid desperate efforts to find a treatment for the neurodegenerative disease Alzheimer’s, the aducanumab saga continues, as a US Food and Drug Administration panel will determine whether a post-hoc analysis of the arrested trials EMERGE and ENGAGE could be enough to approve the drug.
Growing up in the rich microbial environment of a farm strongly influences the maturation of the gut microbiome in the first year of life, which helps protect against the development of asthma in children.
In the spring of 2020, a series of reports from Europe and the USA described clusters of children and adolescents presenting with a life-threatening, hyperinflammatory syndrome — called ‘multi-system inflammatory syndrome in children’ (MIS-C) — that was seemingly linked to prior exposure to the coronavirus SARS-CoV-2. In June 2020, the US National Institutes of Health convened a workshop of immunologists and clinicians to discuss emerging knowledge and identify key questions surrounding MIS-C, with a focus on innate and adaptive immunity, genetics and epigenetics. This Meeting Report describes the main findings from the workshop.
A smartphone app that combines smartwatch and activity tracker data together with self-reported symptoms allows continuous monitoring of SARS-CoV-2 infection.
Genome sequencing of patients with sporadic congenital hydrocephalus reveals mutations of large effect size indicative of a developmental origin for the disease.
Preliminary results from the Beat AML umbrella trial demonstrates the feasibility and efficacy of applying prospective genomic profiling for matching newly diagnosed patients with AML with targeted therapies.
Malaria cases are predominant during the rainy seasons in many endemic regions owing to the life cycle of the mosquito vector. How Plasmodium falciparum adapts in humans during the intervening dry season, without causing malaria symptoms or killing the host, offers new insights into its persistence in humans.