Scientists create first mouse model for rare genetic encephalopathy

A team of researchers at the Centre de recherche Azrieli du CHU Sainte Justine has created the first mouse model that accurately replicates a severe form of genetic encephalopathy caused by mutations in the DHDDS gene. The breakthrough, published in the journal Brain, offers scientists an unprecedented tool to investigate the biological mechanisms behind this neurodevelopmental disorder and potentially accelerate the development of new treatments.

The encephalopathy manifests in early childhood with symptoms including intellectual disability, epileptic seizures, involuntary movements, and coordination difficulties that worsen over time. Professor Alexey Pshezhetsky, a pediatric researcher at the University of Montreal, explained that while the first cases were identified about a decade ago at CHU Sainte Justine, very little was known about the disease's underlying mechanisms or its global prevalence at the time.