Fragile X Syndrome (FXS) In Vitro Assay Service

As a leading neurobiology CRO, we offer a cutting-edge in vitro fragile X syndrome (FXS) testing service platform. Designed to streamline your research, our platform leverages the latest scientific advancements and multi-dimensional analysis technologies. From fundamental research to high-throughput drug screening, we provide comprehensive solutions to propel your FXS studies forward. Creative Biolabs provides a comprehensive suite of advanced in vitro, in vivo, and ex vivo assays, enabling researchers to precisely investigate the complex mechanisms driving FXS pathogenesis.

Available Models Available Assays

Available In Vitro Models

Fig. 1 Representative images of immunostaining for FMRP-WT and FMRP-KO cells. Fig.1 Representative images of immunostaining for FMRP-WT and FMRP-KO cells at day 25.¹

Cell models	Details
Primary Neuron Culture Model	Primary cortical and hippocampal neurons from newborn Fmr1 knockout mice were cultured on microelectrode arrays (MEAs). This model enabled the observation of synchronized electrical activity, burst patterns, and synaptic maturation within developing in vitro neural networks.
Patient-derived Fibroblast Model	Patient-derived fibroblast models from FXS patients exhibit a key characteristic: increased basal protein synthesis. This is coupled with abnormal activation of mTOR and ERK1/2 signaling pathways. Consequently, these cells are highly valuable for drug screening. For example, S6K1 and PI3K inhibitors have demonstrated the ability to effectively reduce the elevated protein synthesis rate in these FXS fibroblasts.
Slice Electrophysiology Model	Our hippocampal slice electrophysiological model offers a powerful tool for investigating synaptic function, plasticity, and network activity in a physiologically relevant context. This model allows for detailed analysis of neuronal signaling, making it ideal for studies on learning, memory, and neurological disorders.

Available FXS In Vitro Services

We offer a comprehensive in vitro testing platform designed to fully support Fragile X Syndrome (FXS) drug development. This platform integrates high-throughput screening, molecular mechanism analysis, and cell model validation. Key features include:

Compound Screening and Validation

Using human FXS fibroblasts and iPSC-derived neurons to evaluate compounds targeting the MMP-9/ECM pathway and their effects on synaptic plasticity and cognition.

Gene Therapy Strategy Validation

Utilizing in vitro models to validate gene activation technologies (e.g., 5-azadeoxycytidine) for FMR1 gene demethylation and mRNA/protein recovery.

Protein Function Studies

Providing high-purity recombinant FMRP for binding activity analysis (e.g., semaphorin 3F mRNA) and target mechanism analysis.

Synaptic Phenotype Analysis

Employing high-content imaging to quantify synaptic formation and functional abnormalities, suitable for FXS, autism, and Rett syndrome studies.

For further information regarding the products and services provided, project-specific consultation, and pricing, please submit an inquiry here.

Reference

Brighi, Carlo, et al. "Novel fragile X syndrome 2D and 3D brain models based on human isogenic FMRP-KO iPSCs." Cell Death & Disease 12.5 (2021): 498. Distributed under Open Access license CC BY 4.0, without modification.

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