AI models map 766 genes in schizophrenia genetic architecture
Researchers from the Lieber Institute for Brain Development and the University of Bari used computational models to reveal an interconnected network of genetic interactions driving the disease.
A study published in Nature Genetics has utilised artificial intelligence-based computational models to identify 766 genes associated with schizophrenia, including 641 variants not previously recorded in transcriptomic analyses. The research, led by scientists from the Lieber Institute for Brain Development and the University of Bari, provides a detailed map of the disease’s genetic architecture, suggesting the disorder arises from an interconnected network of genetic interactions rather than single mutations.
The findings challenge the traditional view of schizophrenia as a condition driven by isolated genetic errors. Instead, the data indicates that hundreds of genetic variants, each with small effects on different brain processes, coordinate to amplify risk. These variants influence neural development, alter communication between neurons, and affect the organisation of brain connections. The study reinforces the concept that these genes function as a biological network influenced by long-range genetic regulatory signals.
To reconstruct this complex genetic landscape, researchers analysed data from more than 102,000 individuals and examined brain tissue samples from six brain regions obtained from hundreds of donors. The project involved collaboration with dozens of psychiatric centres across various countries. By applying AI models to this extensive dataset, the team was able to identify coordinated activity among thousands of genes, effectively illuminating a larger portion of the disease’s genetic map than previously possible.
The World Health Organization estimates that schizophrenia affects approximately 23 million people worldwide, or one in every 345 individuals. The disorder typically manifests through hallucinations, delusions, social isolation, and cognitive difficulties such as memory problems and attention deficits. While family history increases the risk of developing the condition, it does not determine it, with some individuals diagnosed despite having no known family history and others with affected relatives remaining unaffected.
Although the study provides one of the most detailed pictures of the genetic architecture of schizophrenia to date, the exact mechanisms by which these numerous biological factors interact remain unknown. The findings do not yet translate into specific treatments, but the detailed map of the disease’s genetic basis opens new avenues for research into potential therapeutic interventions. This story originally appeared on WIRED en Español and has been translated from Spanish.
