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Axion: RESTORING FRAGILE X FUNCTION WITH GENE EDITING
Fragile X syndrome is the most prevalent genetic form of intellectual disability with an incidence of one in 4,000. Patients with Fragile X syndrome display a broad spectrum of autistic phenotypes that range from mild to severe intellectual, social, and reasoning deficits. This disorder stems from the loss of the Fragile X mental retardation protein, FMRP, an RNA binding protein which is essential for synaptic function. Currently, there is no cure or treatment for Fragile X syndrome due in part to the complexity in the Fragile X syndrome neuronal circuitry.
In this Coffee Break Webinar, Dr. John Graef (Fulcrum Therapeutics) demonstrates how using CRISPR gene-editing and patient-derived cells Fulcrum can create the Fragile X syndrome phenotype in a dish. Moreover, this approach has enabled an estimate of the level of FMRP protein expression required to correct the observed Fragile X syndrome phenotype.