Tag: fragile X syndrome

The symptoms of fragile X syndrome stem from the loss of a single protein, raising the possibility that reintroducing FMRP could counter the key problems that lead to disrupted signal processing and aberrant behaviors. Turner is proposing a new means to reintroduce a short active fragment of FMRP back into central neurons in the Fmrp1 knockout mouse model to assess its potential utility as a therapeutic strategy to restore circuit and behavioral function in fragile X syndrome.

Assessing network and synaptic communication in the hippocampus of behaving Fmr-1 null mice, André Fenton and colleagues showed altered network communication linked to behavioral alterations in fragile X syndrome.

SFARI is pleased to announce that it has awarded 32 grants (19 Pilot Awards and 13 Research Awards) in response to the 2017 Pilot and Research Awards request for applications (RFA).

Portera-Cailliau and O’Donnell will study neural responses to tactile stimuli in fragile X syndrome mice to test whether sensory representations are varying and unstable over time.

Frick previously demonstrated a link between BKCa channel dysfunction, neocortical hyperexcitability and sensory hypersensitivity in the Fmr1-/y model of ASD. Drawing on this work, Frick will explore the potential of channel agonists for the therapeutic correction of phenotypes associated neocortical hyperexcitability/sensory hypersensitivity in genetic mouse models of ASD.

This project aims to study pharmacological tools that enhance energy production efficiency in neurons as a way to enhance learning and memory in individuals with fragile X syndrome.