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.
Preclinical Testing of High Fat/Low Carb Diets in Fragile X Mice and Cells
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.
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.
Characterization and Modulation of microRNAs in Fragile X Syndrome
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.
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.
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.
mRNA Therapy for Fragile X Syndrome
Dr. Kathryn Whitehead helped develop the science behind the COVID-19 vaccines. Her team adapted this technology to deliver the Fragile X mRNA to brain cells.
Sigma-1 Receptor as a Therapeutic Target for Fragile X Syndrome
Researchers will test sigma-1 receptor drugs—like fluvoxamine, which activates this pathway—to see if they can correct Fragile X brain cell abnormalities.
Altered Sleep in Fragile X Syndrome: Basis for a Potential Therapeutic Target
With this FRAXA grant, Dr. Carolyn B. Smith and Dr. Rache Sare at the National Institute of Mental Health investigated the basis of sleep problems in Fragile X syndrome.
Targeting Serotonin 1A Receptors in Fmr1 Knockout Mice
Boosting serotonin 1A receptors may reduce excess brain activity in Fragile X. This study will test serotonin-1A–targeting compounds in mice to guide future treatments.
Transcriptional Signatures Sensitive to Cognition-Improving Pharmacological Treatments in Fragile X Syndrome
This team is defining Fragile X “molecular signatures” to use as biomarkers. They’ll test CBD and other drugs in mice and compare findings to human brain data.
Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain
Enhancing PKCε in early development normalized oxytocin, AMPAR signaling, and adult behavior in Fragile X mice, highlighting PKCε as a promising therapeutic target.
Characterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS
This team is designing tiny “peptidomimetic” drugs that mimic FMRP’s function to rebalance protein production in the brain, aiming to treat Fragile X at its source.
Cannabinoids as a Treatment for Fragile X Syndrome
This team uses EEG to study sensory hypersensitivity in Fragile X. By testing drugs in mice, they aim to find treatments that calm brain overactivity.
Inhibiting Nonsense – Mediated mRNA Decay: A Potential Treatment Approach for Fragile X
This team previously discovered runaway nonsense-mediated mRNA decay (NMD) in cells of Fragile X patients. They will now test drugs to reduce NMD.