July 2025: Avraham: A new mouse model may help develop treatments for an ultra-rare genetic disorder
Prof. Karen Avraham, Edmond J. Safra member and the dean of the Gray Faculty of Medical & Health Sciences, and colleagues, developed a mouse model that may help develop treatments for an ultra-rare genetic disorder.
Prof. Moran Rubinstein, Prof. Karen Avraham, Edmond J. Safra member, and dean of the Gray Faculty of Medical & Health Sciences, and colleagues, have developed a knock-in mouse model, mimicking the human condition caused by mutations in the GRIN2D gene.
This model replicates the ultra-rare GRIN2D-related developmental and epileptic encephalopathy, allowing scientists to study disease mechanisms and assess pharmacological and gene-based therapeutic strategies.
This is a major step forward in the search for a cure for GRIN2D-related disease.
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