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With data from more than 500,000 adults in China, we assessed the association of alcohol use with a range of diseases reported in hospital records, using standard epidemiological and genetic approaches. We found that alcohol consumption was associated with higher risks of over 60 diseases in Chinese men, expanding the scope of known alcohol-related harms.
Results from the LAVENDER phase 3 study demonstrate that trofinetide, a synthetic analog of glycine–proline–glutamate, provides significant therapeutic benefits in the core symptoms of Rett syndrome
The signaling-specific inhibitor AEF0117 selectively inhibits CB1 activation by THC and reduces self-administration and subjective effects of cannabis in clinical trials, making it a potential treatment for cannabis use disorder.
A report from the Australian Acute Care Genomics programme shows that the integration of rapid whole-genome sequencing and multi-omic analyses informs diagnoses and treatment decisions in a prospective cohort of 290 critically ill infants and children.
Observational analyses from the China Kadoorie Biobank found that alcohol consumption was associated with higher risks of 61 diseases in Chinese men, with most of these associations confirmed by genetic analyses.
A single-cell atlas of the human lungs, integrating data from 2.4 million cells from 486 individuals and including samples from healthy and diseased lungs, provides a roadmap for the generation of organ-scale cell atlases.
α-Synuclein seeds have been identified in various tissues in patients with synucleinopathies. We have developed real-time quaking-induced conversion combined with immunoprecipitation, a method that enables the detection of α-synuclein seeds from the serum of patients with synucleinopathies. This method can lay the foundation for the biological diagnosis of synucleinopathies.
Observational studies provide crucial information early during epidemics and pandemics, but they often suffer from methodological shortcomings, which can be resolved.
We performed multi-ancestry genome-wide meta-analyses of preeclampsia/eclampsia and gestational hypertension, identifying 12 susceptibility loci associated with one or both conditions. These analyses enabled the derivation of genome-wide polygenic risk scores, which predicted the development of these hypertensive pregnancy complications in independent cohorts, independent of clinical risk factors.
Analysis of tumor samples from patients with nasopharyngeal carcinoma shows that gemcitabine plus cisplatin chemotherapy activates a unique population of innate-like B cells, which enhance the cytotoxic CD8+ T cell response and are associated with better clinical outcomes.
In patients with DNA damage response-deficient solid tumors, the oral ATR kinase inhibitor camonsertib was well tolerated; a recommended phase 2 dose was identified; and encouraging anti-tumor activity was observed, with the highest response rate observed in patients with ovarian cancer.
Nature Medicine explores the latest translational and clinical research news, with a delayed FDA decision on Sarepta’s adeno-associated virus gene therapy SRP-9001.
In a phase 2 trial of patients with untreated, recurrent and progressive brain metastases treated with an anti-programmed cell death protein 1 inhibitor, the overall intracranial benefit rate was 42.1%, which met the prespecified primary endpoint.
The US Food and Drug Administration has reduced requirements for preclinical animal testing, leading to a surge of interest in organoids, tissue chips and in silico testing.
Genomic and cell-free DNA sequencing clarify the clinical diagnosis and inform treatment initiation in a cohort of 356 patients with vascular anomalies.
Analyses of large population-based cohorts and clinical trials show that using polygenic scores to account for variability in PSA levels improves detection of prostate cancer, suggesting an approach for enhancing screening accuracy.
