Quiver Bioscience (“Quiver”), a discovery technology and therapeutics company advancing programs for treatment of serious central nervous system (CNS) disorders, announces a peer-reviewed publication in Nature Communications Biology. The paper, titled “Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype” features application of Quiver’s ‘Genomic Positioning System (GPS)’ platform to develop a robust human neuronal model of Fragile X Syndrome (FXS) and enable drug discovery efforts for the neurodevelopmental disorder. Quiver’s GPS platform, on full display in the study, integrates unique-in-world, scalable, human neuronal electrophysiology data (the ‘language’ of the brain) with artificial intelligence and machine learning (AI/ML) to drive novel insights into the best therapeutics for the right patients.

FXS is a neurodevelopmental disorder caused by loss of the FMR1 encoded protein Fragile X Messenger Ribonucleoprotein (FMRP). It affects 1 in 7,000 males and 1 in 11,000 females and is the leading genetic cause of intellectual disability and autism spectrum disorder. FXS symptoms include delays in development, seizures, and speech difficulties. There are currently no approved treatments for FXS.

The new publication identifies unique differences in human Fragile X brain cells, or neurons, using Quiver’s high-throughput all-optical electrophysiology platform. The data used to identify these important differences were acquired from induced pluripotent stem cells (iPSCs) from multiple FXS patients and their neurotypical familial controls and by using CRISPR/Cas9 genome engineering. Neuronal function was profiled at high-resolution from a total of 20 individual cell lines using Quiver’s GPS platform and AI/ML models were used to uncover the disease-relevant cellular features, which were highly reproducible across patient-derived cell lines and multiple rounds of experiments and could be fully rescued upon restoration of normal FMRP protein levels. This valuable cellular assay was optimized for high-throughput screening of small molecule compounds and could differentiate drug mechanisms-of-action based on their degree of rescue. The study is an exemplary demonstration of the utility of Quiver’s platform in modeling neurological disease at a scale necessary for drug discovery.

“The scalability and sensitivity of our approach makes it the optimal system for investigating human FXS disease biology and uncovering new drug targets. We are excited to continue this work towards developing effective therapeutics for the FXS community” says lead author Dr. James Fink. Quiver aims to apply this innovative assay, and others which they have developed for additional CNS disorders, to advance discovery of novel precision therapies. “Our Brain GPS creates an entirely novel data layer for the biopharma industry, enabling us to bridge the gap between changes in gene expression to clinical phenotypes through a deeper understanding of neuronal and circuit level dysfunction,” says corresponding author Dr. Graham Dempsey. “We are excited to share this publication with the community and look forward to using our approach with partners to create differentiated medicines.”

About Quiver Bioscience

Quiver Bioscience is a technology-driven company established to create transformational medicines for the brain while simultaneously uncovering new biology and novel, effective drug targets. Using advanced single-cell imaging and multi-omics, we are building the world's most information-rich neuronal insight map via our "Genomic Positioning System". Our approach integrates cutting-edge scalable human models, state-of-the-art technology and proprietary engineering, and learning and surrogate AI/ML models to identify novel therapeutic targets and the best candidate molecules to deliver new and meaningful therapeutics to patients. For information, including additional publications describing application of Quiver’s GPS to drug discovery, visit www.quiverbioscience.com.

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