FMRP Regulatory Role in Human Hippocampal Development and Therapeutic Interventions in Fragile X
Fragile X syndrome hippocampal organoids show neuron–glia imbalance. This team will map disrupted gene networks and test PDE inhibitors to restore brain function.
ASO Rescue of FMR1 Mis-Splicing in Neurons and Mitigation of Fragile X Deficits
A new FRAXA grant funds UMass Chan researchers using ASOs in neurons and organoids to correct FMR1 mis-splicing and restore critical FMRP protein.
Evaluating Novel Drug Candidates for Fragile X Using the Live Mouse Tracker
This grant is funding AI-driven drug discovery, advanced mouse behavior tracking, and gene expression analysis to uncover new treatments for Fragile X syndrome.
Metabolic and Mitochondrial Crosstalk in Insulin and cAMP Pathways in Fragile X Syndrome
Fragile X syndrome research explores insulin and cAMP pathway crosstalk, mapping brain metabolism to guide treatment strategies.
Oligodendrocytes: a Potential Route to Treat Fragile X Syndrome
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.
Shionogi’s EXPERIENCE Phase 3 Clinical Trial of Zatolmilast in Fragile X Syndrome
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.
Sex Differences and the Role of Estrogen Receptors in Fragile X
Fragile X syndrome researchers are studying how estrogen receptors shape brain activity and may explain why males and females experience symptoms differently.
Modeling R-Loop Therapy for Fragile X Syndrome in Patient-Derived Brain Organoids
Fragile X syndrome researchers model R-loop therapy in patient-derived brain organoids to restore FMR1, accelerating a curative approach supported by FRAXA.
Investigating the Role of the Insulin Degrading Enzyme (IDE) in Fragile X Syndrome
This study explores how disrupted insulin signaling affects metabolism and brain function in Fragile X, revealing new treatment targets for both body and mind.
Altered Physiology of Primary Visual Cortex in Fragile X Syndrome
This team believes inhibitory neurons expressing somatostatin are impaired in Fragile X. They will see if stimulating these neurons has therapeutic potential.
To Interrogate the Developmental Timing for Treating Fragile X Syndrome
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.
Pharmacologically Activating mGluR7 as a Novel Therapy for Fragile X Syndrome
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.
Pharmacological Modulation of Nicotinic Signaling
This study tests whether blocking certain nicotine-sensitive receptors in the brain during adolescence can improve attention and cognition in Fragile X.
Astrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome
This team studied how faulty calcium signaling in astrocytes contributes to sensory hypersensitivity in Fragile X, aiming to find new astrocyte-targeted treatments.
Reactivating the FMR1 Gene to Reverse Fragile X Syndrome
This project aims to reactivate the FMR1 gene to combat Fragile X Syndrome, with the goal of restoring vital protein function. This work is now funded by a new FRAXA grant.
C-subunit Mitochondrial Leak Channel in Fragile X Syndrome
Explore Yale’s groundbreaking study on mitochondrial leak channels, set to revolutionize Fragile X syndrome treatment. Funded by a $100,000 FRAXA grant.
Antisense Oligonucleotides (ASOs) to restore FMRP in Human Fragile X Cerebral Organoids
Explore Dr. Richter’s encouraging results with ASOs for Fragile X syndrome. A $100,000 grant now fuels pivotal studies needed to advance toward ASO therapy.
Slack Potassium Channel Inhibitors to Normalize FMR1 Knockout Mice
FRAXA research grant enabled Yale researchers to investigate whether Slack potassium channel inhibitors can normalize behaviors in FMR1 knockout mice.
Roles of Postnatal Transient Connectivity in the Development of Fragile X Syndrome
This team is studying why people with Fragile X are overly sensitive to sound and light, using advanced imaging to find brain changes and test ways to prevent them.
The Endocannabinoid System and Fragile X Syndrome
This project will examine how CBD and other drugs targeting the endocannabinoid system affect hyperexcitable Fragile X neurons to identify new treatment strategies.
SRC Family Kinase Inhibitor as a Potential Treatment for Fragile X Syndrome
This $100,000 FRAXA grant will fuel the Smith lab’s new approach to treating Fragile X syndrome using Saracatinib, originally a cancer drug.
Using Exosomes to Discover Fragile X Biomarkers
Could a simple blood test show if a Fragile X treatment is working? This team is studying brain-derived exosomes as a new way to track treatment benefits.
Targeting Cognitive Function in Fragile X Syndrome
Why do males and females experience Fragile X differently? This team is studying brain signaling pathways to uncover sex-based differences and guide treatments.
Validating Novel Inhibitors of ERK Signalling to Treat Fragile X Syndrome
This team is testing ERK inhibitors — drugs that may calm overactive brain signaling in Fragile X. Early results in mice show strong benefits with minimal side effects.