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A breakthrough study has identified mutations in the gene VPS25 as the cause of a previously unknown fatal brain disorder in newborns. Researchers from KAUST and KFSHRC connected five unrelated families across Saudi Arabia, Europe, and North America to uncover the shared genetic culprit. The discovery opens the door to genetic testing during pregnancy and better counseling for affected families.
For families who lost children to a devastating and unexplained brain disorder, years of uncertainty may finally be coming to an end. Researchers at King Abdullah University of Science and Technology (KAUST) and King Faisal Specialist Hospital and Research Center (KFSHRC) have identified mutations in the gene VPS25 as the cause of a previously unknown fatal newborn brain disorder — the first time this gene has ever been linked to a human disease.
The condition disrupts brain development before birth, causing severe seizures, profound developmental delays, and major structural brain abnormalities. By connecting five unrelated families across Saudi Arabia, Europe, and North America, researchers found that changes in VPS25 — a gene critical for maintaining nerve cells — disrupt key biological processes, altering the tiny cellular "packages" that deliver protective proteins to neurons.
Key Takeaways:
Why it matters: For rare diseases, a single family's case is rarely enough to identify a cause. This discovery shows how international genomic collaboration can unlock answers for conditions that might otherwise remain invisible — and gives grieving families both closure and a path forward.
