Novel mouse model reveals the mechanisms of a rare genetic encephalopathy

A team at the Centre de recherche Azrieli du CHU Sainte-Justine has reached a major milestone in understanding a rare and severe form of genetic encephalopathy associated with the DHDDS gene. By developing the first mouse model that faithfully reproduces one of the human forms of the disease, researcher Alexey Pshezhetsky, a professor in the Department of Pediatrics, and Dr. Elsa Rossignol, a professor in the Department of Neuroscience, both at UdeM, provide the scientific community with an unprecedented tool to investigate the biological mechanisms underlying this neurodevelopmental disorder and accelerate the development of new therapeutic strategies.

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