Reviews & Analysis

A new study expands the utility of the gold-standard ferret model to assess the risks that are associated with consuming raw milk and cheese contaminated with influenza A virus — marking an important step toward improving risk assessments in public health.

We show that clinically accredited genomic newborn screening can be delivered with short turnaround times, detects many more conditions than standard newborn screening, and is both clinically impactful and highly acceptable to families.

We found that adults carrying melanocortin 4 receptor (MC4R) mutations had lower levels of low-density lipoprotein cholesterol, lower triglyceride levels and reduced cardiovascular disease risk than adults without mutations, despite severe obesity. We show that brain MC4Rs regulate lipid metabolism in humans, highlighting potential therapeutic approaches for cardiovascular risk reduction.

The first-in-human trial of AAV2i8-I1c (AB-1002) — an adeno-associated virus vector that targets a protein phosphatase inhibitor to cardiac muscle — suggests a cautious return of cardiac gene therapy after earlier setbacks, with a new target, dose optimization and improved vector design shaping future directions.

BioCog is a brief, self-administered digital test battery that helps to accurately detect cognitive impairment in primary care patients undergoing evaluation for a possible neurodegenerative disease. When combined with blood biomarker tests, the digital test outperformed current standard-of-care assessments of Alzheimer’s disease, supporting a more precise, efficient and timely diagnosis.

A new study provides physiological insights into the dying process, which could have substantial implications for resuscitation science, death determination and organ donation.

A multi-center, hospital-based observational study in India evaluated the effectiveness of Rotavac, a locally produced rotavirus vaccine, against laboratory-confirmed rotavirus gastroenteritis in children under 5 years of age. Vaccine effectiveness was stratified by age and viral genotype, and vaccine impact was assessed through comparisons of rotavirus positivity before and after Rotavac was introduced in the national immunization program.

Three studies that leverage blood-based gene expression data identify molecular and cellular host response signatures in sepsis and critical illnesses, opening a pathway to mechanism-anchored precision therapy.

Two phase 1 studies report promising outcomes with chimeric antigen receptor (CAR) T cell therapies in patients with systemic lupus erythematosus, but the next stage of development must address key pitfalls around comparator arms and ancillary immune-modulating treatments.

Malaria parasites that evade the most widely used rapid diagnostic tests are spreading. We combined new data and modeling to pinpoint global hotspots at risk for these diagnostic-resistant parasites and to guide surveillance and contingency plans.

The ICMR-INDIAB survey of 18,090 adults revealed major differences in macronutrient intake across different regions in India. The study demonstrated that replacing dietary carbohydrates with plant and dairy protein is associated with a lower risk of diabetes, providing new public health strategies to mitigate metabolic risk.

A clinical trial of pregnant women provides critical safety and immunogenicity data in support of a two-dose Ebola vaccine regimen — and reinforces the importance of maternal immunization research, urgently needed for other preventable diseases.

This Review summarizes recent technical advancements in generative AI, outlines how new models might improve healthcare and discusses validation approaches—using lessons from recent successes and failures in the field.

Despite mixed efficacy outcomes, a phase 1/2 umbrella trial brings the glioblastoma field closer to a new era of diagnostic precision and targeted therapy.

We introduce a diagnostic biomarker for amyotrophic lateral sclerosis that distinguishes it from similar conditions by examining a combination of plasma proteins. This innovation also offers insights into the underlying mechanisms of the disease, highlighting a compensatory process in skeletal muscle and bioenergetics that seems to start much earlier than previously thought.

There are strong indications that MNP exposure negatively impacts human health, but a robust evidence base is lacking. This Review focuses on the current state of the science, offering a critical review of the data, analytical challenges and research priorities.

We assessed the utility of RNA sequencing in molecular diagnostics by analyzing a large pan-cancer cohort ranging in age from infants to seniors. This technique is highly sensitive for the identification of gene alterations that can guide diagnosis and targeted therapy, and enables additional biological and clinical interpretation of findings beyond standard DNA-sequencing protocols.

This Review of the WHO’s International Clinical Trials Registry Platform presents a snapshot of the global cancer trial landscape and provides critical empirical evidence to inform policy, practice and investment.

Imaging data support the clinical effects of RNA interference agent vutrisiran in patients with transthyretin amyloidosis with cardiomyopathy — and point to a potential new role for echocardiographic parameters in monitoring individual treatment responses.

We studied people with obesity involved in the SURMOUNT-1 trial of the dual GLP-1 and GIP receptor agonist, tirzepatide. People with pathogenic variants of the gene encoding the melanocortin 4 receptor (MC4R) lost a similar amount of weight to people with an intact gene, demonstrating that tirzepatide is effective in MC4R deficiency.