Research
Rett Syndrome Program
Rocco Gogliotti, Ph.D.

Understanding the role of neurotransmitters in Rett syndrome and related disorders

Dr. Gogliotti’s work has focused on the syndromic forms of autism, such as Rett syndrome and MECP2-Duplication syndrome, and the role that metabotropic glutamate receptors and muscarinic acetylcholine receptors play in disease etiology. These studies are rooted in expression data from the brains of human patients, where he has established that mGlu5, mGlu7 and M4 protein levels are significantly reduced. Using novel compounds developed in the Vanderbilt Center for Neuroscience Drug Discovery, he has defined which aspects of neurotransmission are affected by receptor deficiency, and has identified specific symptom domains that can be rescued by normalizing their signaling pathways in model mice.

The goal of Dr. Gogliotti’s bench-to-bedside studies is to identify novel components of the basic science underlying disorders, which are present in human patients and can be targeted therapeutically to improve the lives of the patients and families affected by these disorders.