Amour Fund is proud to partner with Dr. Edmondson of Children’s Hospital of Philadelphia and Dr. Zhaolan Zhou of the University of Pennsylvania in the Establishment of a Personalized Mouse Model of PMM2-CDG.
The project has been successful in generating compound heterozygote mice with floxed PMM2, and knock-in allele of the most common patient-specific PMM2-CDG mutation, R141H. The intent is to interrogate neurodevelopmental deficits in brain-specific knock-out studies of PMM2.
The team will perform initial characterization of neurologic deficits in the PMM2-CDG mouse model, enabling its future use in preclinical studies of therapeutic agents for PMM2-CDG. This work address Amour Fund’s goal to “fund research for developing a cure and treatment for CDG”. Mouse research is essential to develop a cure for a complex disease like PMM2-CDG. The data generated as a result of this research proposal will provide essential preliminary data to obtain future NIH funding.
Below is a link to the presentation at the World CDG Conference and a video of the first mouse.