Alternative Splicing in White Blood Cells: A Biomarker for Fragile X Syndrome

September 2, 2021

This team found 1,600 blood-based Fragile X biomarkers that vary by individual—opening the door to personalized treatment and better ways to measure progress.

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Link Between Lipid Profile, eCBome System and Gut Microbiome in Fragile X Syndrome

July 15, 2021

Why does obesity challenge so many people with Fragile X? Dr. Caku’s team has found that Fragile X syndrome causes changes in the tiny organisms that live in our gut.

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Characterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Model

July 1, 2021

Microglia are excessively activated in Fragile X models. The team will investigate the mechanisms and attempt to correct this using drugs.

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The Role of Astrocyte BMP Signaling in Fragile X Syndrome

June 17, 2021

Researchers found a pathway in astrocytes that is overactive in Fragile X syndrome, and they hope to bring this pathway back to normal with a drug.

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Identifying Cellular and Molecular Signatures in Human Neurons That Distinguish Fragile X Syndrome Patients with Divergent EEG Profiles

June 4, 2021

Just as Fragile X affects individuals differently, medications do as well. This project aims to bring personalized medicine to Fragile X syndrome.

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Preclinical Testing of High Fat/Low Carb Diets in Fragile X Mice and Cells

May 28, 2021

Dr. Cara Westmark’s team will use mice to determine if palatable Atkins-type diets can improve sleep and boost learning skills for those with Fragile X syndrome.

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Pharmacotherapeutic Effects of Cannabidiol (CBD) in Fragile X syndrome (FXS) and Autism Spectrum disorder (ASD)

May 6, 2021

This study tested CBD (cannabidiol) treatment in male and female Fragile X mice to learn how and why it works and whether gender affects responses to CDB treatment.

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Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

March 9, 2021

This Stanford University team assessed combinatorial drug treatments to correct a broad spectrum of deficits observed in Fragile X syndrome. Results published.

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FRAXA Funded Research

Current Research Grants (39)