Fragile X Syndrome (FXS)

Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability and a leading monogenic cause of autism spectrum disorder (ASD). It arises from a CGG trinucleotide repeat expansion in the FMR1 gene, leading to its transcriptional silencing and loss of Fragile X Mental Retardation Protein (FMRP).

FXS in vitro models provide controlled environments to study neuronal signaling, synaptic plasticity, and dendritic spine maturation. These models leverage patient-derived iPSCs, CRISPR-engineered isogenic controls, and advanced neuronal differentiation protocols to replicate FXS-specific pathology.