Neuropathology and Experimental Therapy of Creatine Transporter (CrT) Deficiency

2015 Seed Grant
Chia-Yi Kuan, M.D., Ph.D.
Emory University

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.

Other Grants

Lindsay M. De Biase, Ph.D., University of California Los Angeles
The Role of Microglial Lysosomes in Selective Neuronal Vulnerability
Synapses, the sites of signaling between neurons in the brain, play essential roles in learning, memory, and the health of neurons themselves. An enduring mystery is why some neurons are…
How the Nervous System Constructs Internal Models of the External World
As animals navigate their environments, they construct internal models of the external sensory world and use these models to guide their behavior. This ability to incorporate ongoing sensory stimuli into…
Xiaojing Gao, Ph.D., Stanford University
When Neural Circuits Meet Molecular Circuits: Quantitative Genetic Manipulation with Single-cell Consistency
Cells are the building blocks of our bodies. We get sick when the cells “misbehave”. The way modern gene therapies work is to introduce genes, fragments of DNA molecules that…
Rafiq Huda, Ph.D., Rutgers University
Conducting the Orchestra of Movement—Functional Role of Striatal Astrocytes in Health and Disease
Movement requires coordinated activity across a large brain-wide network. The striatum is a particularly important part of this circuit; it integrates motor-related information from many distinct brain regions to regulate…