03/09/2026
Faculty of Biomedical Sciences researchers have helped identify the cause of a previously unrecognised neurodevelopmental disorder.
Dr Meghan Mulligan, of the Department of Biochemistry, says the finding has given people around the world an answer to the source of their family member’s neurological condition.
“Neurodevelopment depends on precise orchestration of the dosage, location, and timing of gene expression. Before the study, the gene ELAVL2 was known to have an important role in helping influence brain development, but no one had connected it with a genetic condition. We have now discovered variants in this gene are the cause of a previously undefined neurodevelopmental disorder.”
Published in the prestigious journal The American Journal of Human Genetics, the study was an international collaboration between researchers at Otago and in the Netherlands. Read more here
University of Otago – Ōtākou Whakaihu Waka researchers have helped identify the cause of a previously unrecognised neurodevelopmental disorder.