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

José Manuel Baizabal Carballo, Ph.D., Indiana University Bloomington
Heterochromatin Mechanisms of Cortical Expansion
Neurodevelopmental disorders, such as autism and schizophrenia, are frequently associated with mutations in genes that encode chromatin-modifying enzymes. A subset of these mutations is thought to disrupt compacted chromatin (heterochromatin),…
Jessica L. Bolton, Ph.D., Georgia State University
Chemogenetic Tools in Microglia as a Novel Therapeutic Approach for Brain Disorders
All humans are born with a unique combination of genes, which contribute greatly to who we are. However, early-life experiences such as trauma or hardship, particularly during the first few…
Junyue Cao, Ph.D., The Rockefeller University
Elucidate the Molecular and Cellular Targets of Caloric Restriction in Rejuvenating Aged Mammalian Brain
As we age, the brain’s ability to function declines, increasing the risk of cognitive impairments and neurological diseases like Alzheimer’s and Parkinson’s. Our research investigates how caloric restriction (CR), a…
Vasileios Christopoulos, Ph.D., University of Southern California
Understanding the Mechanisms of Micturition in the Brain and Spinal Cord
This research aims to better understand how the brain and spinal cord work together to control urination, a process known as micturition. In healthy individuals, this process is carefully coordinated…