Grant: Operating Grant

The Fragile X syndrome, one of the most frequent genetic disease, is the most common form of inherited mental retardation. It affects 1 person out of 5000 in the population all over the world. The syndrome results from the absence of the Fragile X mental Retardation Protein (FMRP). This protein is normally involved in the transport and metabolism of messenger RNA that are required for the synthesis of specific proteins necessary for normal neuron circuitry and development. We are currently using normal as well as defective cells in culture to understand the missing functions that leads to mental retardation. We are also studying how FMRP interacts with its RNA targets in order to understand its functions. These studies will provide critical data to better understand the pathology of mental retardation and possibly to device strategies for therapeutic interventions in the future.