Lida Zoupi and Laura Oliviera with myelin

Oligodendrocytes: a Potential Route to Treat Fragile X Syndrome

August 15, 2025

This project explores the role of oligodendrocytes in Fragile X. The team will test if improving these cells’ function can restore normal brain activity to treat Fragile X.

Read More »

Shionogi’s EXPERIENCE Phase 3 Clinical Trial of Zatolmilast in Fragile X Syndrome

August 5, 2025

Learn more about Shionogi’s EXPERIENCE clinical trials for adults and adolescents with Fragile X syndrome, FRAXA’s role, and the open-label extension of these trials.

Read More »

Sex Differences and the Role of Estrogen Receptors in Fragile X

July 29, 2025

Fragile X syndrome researchers are studying how estrogen receptors shape brain activity and may explain why males and females experience symptoms differently.

Read More »
Jeannie Lee, MD, PhD and Chloe Chen, PhD

Modeling R-Loop Therapy for Fragile X Syndrome in Patient-Derived Brain Organoids

July 18, 2025

Fragile X syndrome researchers model R-loop therapy in patient-derived brain organoids to restore FMR1, accelerating a curative approach supported by FRAXA.

Read More »
Researcher analyzing gait patterns on a treadmill for Fragile X syndrome motor function study.

Developmental Motor Phenotype in Fragile X Syndrome

July 12, 2025

A little known sign of Fragile X is unsteady walking. This team is developing outcome measures of gait for future treatment trials. Results published.

Read More »

A Tat-Conjugate Approach to Treat Fragile X Syndrome

July 9, 2025

Turner Lab’s innovative approach to treating Fragile X uses a Tat-linked, truncated FMRP protein designed to restore brain function by replacing the missing protein.

Read More »
Marine Anais Krzisch, PhD

Role of Microglia in Fragile X Syndrome

June 26, 2025

Learn how Dr. Marine Anais Krzisch’s $35K FRAXA and ASF-funded project uses human iPSC microglia models to uncover pathways for Fragile X syndrome treatment.

Read More »

Investigating the Neurogenetic Interactions in Fragile X Syndrome

June 16, 2025

Fragile X syndrome research explores how FMRP regulates brain RNA across age, sex, and regions, revealing seizure genes and potential treatment targets.

Read More »
Emily Osterweil

Enhancement of NMDA Receptor Signaling for the Treatment of Fragile X Syndrome

June 15, 2025

Drs. Emily Osterweil and Stephanie Barnes investigated NMDA receptor signaling and how rebalancing protein synthesis could correct Fragile X brain abnormalities.

Read More »
Stephanie Barnes, PhD

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

May 7, 2025

FRAXA-backed work revealed NMDA receptors may hold the key to correcting brain signaling in Fragile X, pointing to new treatment strategies.

Read More »
Drs. Oswald Steward and Patricia Pirbhoy in their laboratory, studying RNA localization and gene activity in Fragile X syndrome using spatial transcriptomics.

Uncovering the Dynamics of FMR1 Using Spatial Transcriptomics for Fragile X

April 17, 2025

Scientists investigate how changes in RNA localization affect cognition and behavior in Fragile X, building knowledge toward more precise therapies.

Read More »

Combining Gene Reactivation with Controlled Sound Exposure to Treat Fragile X Syndrome

March 11, 2025

The team combined gene reactivation with noninvasive acoustic stimulation in a mouse model as an approach to treating Fragile X syndrome.

Read More »

Small-Molecule Inhibitors of Nonsense-Mediated mRNA Decay (NMD) for Fragile X Syndrome

March 6, 2025

This project tests whether small-molecule drugs that reduce overactive nonsense-mediated mRNA decay (NMD) can restore normal gene regulation in Fragile X cells.

Read More »

Clinical Study of Non-Invasive EEG for Children Ages 2-7

February 5, 2025

Dr. Carol Wilkinson, MD PhD at Boston Children’s Hospital recruited children ages 2-7 years with Fragile X syndrome to participate in a study of EEG.

Read More »
Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

October 9, 2024

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

Read More »

Investigating the Role of the Insulin Degrading Enzyme (IDE) in Fragile X Syndrome

October 7, 2024

This study explores how disrupted insulin signaling affects metabolism and brain function in Fragile X, revealing new treatment targets for both body and mind.

Read More »
Mark Bear, PhD & Sara Kornfeld Simpson

Altered Physiology of Primary Visual Cortex in Fragile X Syndrome

September 19, 2024

This team believes inhibitory neurons expressing somatostatin are impaired in Fragile X. They will see if stimulating these neurons has therapeutic potential.

Read More »

Gene Editing of FMR1 to Correct FXS Phenotypes in Mice

September 5, 2024

This team is testing cutting-edge gene editing tools to correct Fragile X mutations in the brain using an advanced new mouse model.

Read More »

Identification of the Proteome of Active and Silenced FMR1 Alleles in Human Stem Cells

August 6, 2024

This project aims to uncover which proteins keep the Fragile X gene silenced. By identifying them, the team hopes to find new ways to switch the FMR1 gene back on.

Read More »

To Interrogate the Developmental Timing for Treating Fragile X Syndrome

July 29, 2024

Are there critical periods in Fragile X syndrome? Will treatment work in adults as well as in children? This team aims to answer these questions.

Read More »

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

July 28, 2024

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.

Read More »

The Endocannabinoid System and Fragile X Syndrome

July 6, 2024

This project will examine how CBD and other drugs targeting the endocannabinoid system affect hyperexcitable Fragile X neurons to identify new treatment strategies.

Read More »

Characterization and Modulation of microRNAs in Fragile X Syndrome

June 7, 2024

MicroRNAs are disrupted in Fragile X; the team will work to understand this and explore ways to correct it with drugs which directly target microRNAs.

Read More »

Pharmacologically Activating mGluR7 as a Novel Therapy for Fragile X Syndrome

March 7, 2024

Join Dr. Tsai and Dr. Kumar on a journey into novel treatments for Fragile X syndrome. Activating mGluR7 could be a game-changer, opening up uncharted therapeutic territory.

Read More »

Categories

FRAXA Funded Research

Current Research Grants (43)