Riyadh:Researchers at King Abdullah University of Science and Technology (KAUST) and King Faisal Specialist Hospital and Research Center (KFSH) have identified a previously unknown genetic cause of a fatal brain disorder affecting newborns, providing crucial answers to families impacted by the condition.

According to Saudi Press Agency, the disorder affects brain development from before birth, leading to severe neurological problems in children, including seizures and developmental difficulties. The study, published in Genome Medicine, involved five unrelated families from Saudi Arabia, Europe, and North America, allowing researchers to identify the shared genetic cause of the disorder.

The research team discovered mutations in the VPS25 gene, which plays a key role in maintaining nerve cells. These mutations disrupt critical biological processes, altering the number and contents of cellular packages, including essential proteins for nerve cell protection. This marks the first evidence linking VPS25 mutations to a human disorder, providing a new avenue for clinicians investigating similar brain abnormalities in children.

The study connected genomic data from families across different regions, with three of the five families identified through genomic programs in Saudi Arabia. The collaboration revealed a pattern that was previously unrecognized, emphasizing the importance of genomic resources in identifying rare genetic conditions.

Jasmeen Merzaban, co-lead of the study at KAUST, highlighted the comfort this discovery brings to affected families by identifying the rare genetic cause. Professor Fowzan Alkuraya, clinical genetics lead on the study, stressed the significance of combining clinical experience with genomic data to reveal patterns in rare conditions.

Researchers hope this discovery will aid in identifying more families globally affected by the disorder, enhancing recognition, diagnosis, and understanding of VPS25’s role in early brain development.