Prefrontal Cortex Network (PFC) Dynamics in Fragile X Syndrome
The team has shown that Fragile X mice have major prefrontal cortex deficits in Fragile X mice. Finding ways to overcome this could reveal new intervention strategies.
$75,000 Raised for Fragile X Research by Friends of FRAXA at our Fall Fling
Over 150 friends joined FRAXA’s Fall Fling at Smith Barn, raising $75K for Fragile X research, including a $25K check hand-delivered!
Correcting Defects in Astrocyte Signaling in Fragile X Syndrome
Astrocytes, brain cells which support neurons, do not transmit signals. Fragile X treatment strategies have been proposed based on correction of “astrocyte phenotypes”.
Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X
With a $35,000 grant from FRAXA, Dr. Peter Vanderklish at Scripps Research Institute, and colleagues, explored the basis of anxiety in Fragile X syndrome.
Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome
This work established a high-content synaptic imaging platform for Fragile X cells to test many candidate drugs for their ability to repair synapse structure and function.
Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome
Dr. Frank Kooy and colleagues conducted a double blind crossover trial of ganaxolone in patients with Fragile X with FRAXA funding. Results of this study were mixed.
Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials
Once the neural marker is identified for a particular challenge, such as kids with poor language versus good language, neural markers can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.
Targeting Serotonin Receptors to Treat Behavioral and Psychological Symptoms
Dr. Clinton Canal targets serotonin receptors to correct brain signaling in Fragile X, guiding drug discovery and repurposing of therapies for anxiety, seizures, and behavior.
Fragile X Awareness Day Origins and a Tribute
Did you know? National Fragile X Awareness Day began in 2000, thanks to FRAXA and advocate David Busby’s work in Washington, DC.
FRAXA Wins Award for Drug Repurposing
Cures Within Reach, the leading global nonprofit focused on repurposing research as a fast track to saving patient lives, has awarded FRAXA Research Foundation the 2017 Golan Christie Taglia Patient Impact Philanthropy Award for efforts to find treatments for the rare disease Fragile X syndrome.
Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X
FRAXA Research Foundation awarded $122,000 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.
Metformin, Diabetes Drug, Potential Fragile X Treatment
Dr. Nahum Sonenberg’s research showed the diabetes drug metformin can correct key signaling defects in Fragile X, leading to clinical trials of this safe, repurposed therapy.
Genes and Gems Fundraiser raises $40,000 for Fragile X Research
Over 300 guests joined the Genes & Gems fundraiser in Columbus, raising funds for FRAXA and hearing from Dr. Craig Erickson of Cincinnati Children’s.
TD Bank invites Friends of FRAXA to Watch the Bruins
Fifty friends of FRAXA enjoyed a Bruins game at TD Garden, uniting Boston’s Fragile X community—thanks to TD Bank’s generous support!
Callum Cup 2017 Raised over $9200 for Fragile X Research
Millburn United’s Callum Cup raised $9K+ for FRAXA, honoring Callum Murphy. Huge thanks to Andrew Murphy, Nick Dawes & all donors!
Fragile X Nervous (System) Breakdown
Dr. Lynn Maquat’s research shows Fragile X disrupts neuron maturation and RNA regulation, impairing brain signaling—pointing to new targets like NMD for drug development.
Repurposing Available Drugs to Treat Fragile X Syndrome – FRAXA Initiatives
FRAXA has focused on identifying existing, approved drugs that could be repurposed for Fragile X, allowing potential treatments to move faster and at lower risk than starting from scratch. We’ve worked to advance the most promising candidates toward real-world use.
Fragile X Research Tackles High Anxiety – Peter Vanderklish
Peter Vanderklish studies the brain circuits driving severe anxiety in Fragile X, identifying targets in stress pathways to develop treatments that reduce anxiety and improve daily life.
PIKE as a Central Regulator of Synaptic Dysfunction in Fragile X Syndrome
With $255,000 from FRAXA Research Foundation, Dr. Suzanne Zukin at Albert Einstein College of Medicine studied signalling pathways in Fragile X syndrome.
A Kinase Assay as a Biomarker for Fragile X Syndrome
Dr. Frank Kooy at the University of Antwerp investigated whether phosphorylation abnormalities are a suitable biomarker for clinical trials in Fragile X syndrome.
University of Cambridge Startup Healx is Rapidly Identifying Existing Drugs to Help Fragile X Patients
FRAXA awarded $44,000 to Healx for drug repurposing to find new treatments for Fragile X syndrome. The results include eight top "hits" which show promise for Fragile X.
Trial and No Error: Better Outcomes for Clinical Trials in Fragile X Syndrome
The team investigated a potential microRNA blood-based biomarker that can be used as a clinical outcome measure for Fragile X syndrome.
NIH Investigator Carolyn Beebe Smith, PhD, Looks to Improve Sleep in Fragile X Syndrome
Carolyn Beebe Smith studies sleep disruptions in Fragile X and tests whether improving sleep with existing drugs can reduce symptoms and enhance behavior.
The New York Times, “Medical Charities Once Advised on Coping With a Disease. Now They Try to Cure It”
Propelled by genome sequencing and social media, thousands of charities have sprung up to finance, coordinate and oversee research for cures. Katie Clapp and her son, Andy, who has Fragile X, a disease that causes intellectual disability, with a therapy horse at Gateway Farm in Merrimac, Mass. Ms. Clapp helped form a group that has spent millions on research for a cure.