According to a recent study co-led by researchers at Yale University and Gabriel Santpere at the Hospital del Mar Research Institute, neuropsychiatric diseases, such as autism, bipolar disorder, or depression, as well as some neurodegenerative diseases such as Alzheimer’s and Parkinson’s, may have their origin in the very early stages of brain formation in the fetus.
The researchers, who are part of the Biomedical Informatics Research Program, a joint group of the Hospital del Mar Research Institute and the Pompeu Fabra University, used a list of nearly 3,000 genes linked to neuropsychiatric diseases, neurodegenerative pathologies, and cortical malformations, and simulated the effect of their alteration on the cells involved in brain development.
To do this, they combined multiple data from human and mouse brains, as well as in vitro neural stem cells.
“Many of the genes involved in mental disorders may be already active and altered during brain development, in a way that promotes mental disorders later on”
The study also identified when and in which cell types the action of these genes was most relevant, indicating when and where you should target the function of these genes, said Xoel Mato-Blanco, first author of the work and researcher at the Hospital del Mar Research Institute.
Understanding these mechanisms and the role of each gene in each disease can help develop targeted therapies that act on them, opening opportunities for gene therapy and personalized treatments.
Mato-Blanco, X., Kim, SK., Jourdon, A. et al. Early developmental origins of cortical disorders modeled in human neural stem cells. Nat Commun 16, 6347 (2025). https://doi.org/10.1038/s41467-025-61316-w
