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ePoster
<EM>FMR1 </EM>REDUCTION DRIVES CELL-TYPE TRANSCRIPTOMIC REMODELING AND HYPEREXCITABILITY IN HUMAN CORTICAL CIRCUITS
Aditi Singhand 9 co-authors
Boston Children's Hospital
FENS Forum 2026 (2026)
Barcelona, Spain
Board PS06-09PM-106
Presentation
Date TBA
Board: PS06-09PM-106
Event Information
Poster Board
PS06-09PM-106
Poster
View posterAbstract
Fragile X syndrome (FXS), a leading inherited single gene cause of autism and intellectual disability, results from hypermethylation of the FMR1 gene which leads to the loss of RNA-binding protein FMRP and disruption of synaptic plasticity with cortical hyperexcitability. Yet how FMRP loss shapes human cortical circuit function remains unclear. Here, we model FXS in resected human cortical tissue and slice cultures following FMR1 knockdown to link cell-type specific molecular programs to circuit-level phenotypes, combining single-cell transcriptomics with patch-clamp electrophysiology and two-photon GCaMP imaging in the same experimental framework. Our multimodal analysis identifies clear cellular and functional signatures of FMRP loss in the human cortex and highlights candidate pathways for therapeutic modulation.
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