First Mouse Model Created for Rare DHDDS Encephalopathy

A research team at the Centre de recherche Azrieli du CHU Sainte‑Justine has announced a breakthrough in the study of a rare, severe genetic encephalopathy linked to mutations in the DHDDS gene. By engineering the first mouse model that accurately mirrors one of the human disease phenotypes, the team has created a critical tool for dissecting the underlying biology of this neurodevelopmental disorder.

The model was developed by Professor Alexey Pshezhetsky of the Department of Pediatrics and Professor Dr. Elsa Rossignol of the Department of Neuroscience at the Université de Montréal. Their work provides the scientific community with an unprecedented platform to examine how DHDDS mutations disrupt cellular processes in the brain, to identify biomarkers, and to test potential therapeutic interventions in a controlled, in‑vivo setting.

With this milestone, researchers can now accelerate the pace of discovery and drug development for a condition that has long lacked effective treatments. The mouse model will enable systematic evaluation of candidate therapies and deepen understanding of the disease’s pathogenesis, bringing the medical community closer to viable clinical solutions.