2015 Seed Grant
Chia-Yi Kuan, M.D., Ph.D.
Creatine transporter deficiency is a common cause of mental retardation and autism-related disorder that has no effective therapy to date. We have generated a mouse model that recapitulates clinical symptoms of this disease, and will use a multitude of anatomical, biochemical, behavioral, and imaging methods to unravel the biological functions of creatine transporter in the brain. Positive outcomes of this project will expand our knowledge and change clinical management of this grave neurodevelopmental disorder.