Understanding and repairing impaired endocannabinoid signaling in Fragile X syndrome patient derived neurons

Neural cells are wired and work together in specialized circuits that consist of smaller sets of cells interacting at synaptic connections in a patterned way to rapidly transfer processed information. Intellectual disability affects 2-3% of the general population, coincides with neurodevelopmental disorders, and is often caused by gene mutations that impair synapses. To understand disease conditions, precise molecular signaling needs to be revealed. Here, we perform the analysis of human neurons derived from patients with intellectual disability. My lab is employing an in vitro approach using patient induced pluripotent stem cell (iPSC) from patients with Fragile X Syndrome, which is a genetic disease associated with intellectual disability. We will compare neurons with the disease-causing Fragile X mutation to neurons with engineered mutation correction. Our initial work has elucidated a novel signal pathway, explaining the Fragile X mutation effects. We are now trying to expand these findings and find ways to rescue their effects.