Mechanisms of Tolerance to Chronic mGluR5 Inhibition
FRAXA supported research showing mGluR5 antagonist tolerance develops quickly in Fragile X models, guiding new strategies to prevent or overcome it.
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!
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.
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.
Which is the right FMRP for Therapeutic Development of Fragile X Syndrome?
Many forms of FMRP exist in the brain. This project aims to pinpoint which versions of the protein are most critical to restore for effective Fragile X treatments.
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!
Biomarker Discovery and Validation for Fragile X Syndrome
This grant supported discovery of protein-based biomarkers for Fragile X to create objective outcome measures that translate from mouse studies to human trials.
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.
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.
Function of FMRP and Test of a Novel Therapeutic Approach in a Fragile X Mouse Model
FRAXA-supported work has identified DgkK as a critical enzyme lost in Fragile X. Drugs that raise DgkK levels may correct brain signaling and improve symptoms.
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”.
Sensory Hypersensibility in Fragile X Syndrome and BK Channel Openers
With $366,100 in FRAXA funding, researchers tested BK channel–opening drugs to fix sensory abnormalities in Fragile X mice; early results showed broad behavioral rescue.
Fragile X Mutant Mouse Models
With $375,000 in grants from FRAXA, Dr. David Nelson developed an array of advanced mouse models of Fragile X. These models are available at Jackson Labs (JAX).
MicroRNAs as Biomarkers in Fragile X Syndrome
The team at Johns Hopkins University studied groups of small RNAs, known as microRNAs, which are greatly decreased in brain tissue of Fragile X mice vs. normal controls.
Repurposing Drugs to Dampen Hyperactive Nonsense-Mediated Decay in Fragile X Syndrome
FRAXA-funded research showed nonsense-mediated mRNA decay is overactive in Fragile X, pointing to existing NMD-suppressing drugs like caffeine as potential treatments.
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.
Rolling Stone Magazine: Luke’s Best Chance: One Man’s Fight for His Autistic Son
Rolling Stone’s Paul Solotaroff shares his son Luke’s Fragile X journey, exploring what adulthood looks like for families like ours.
Fulcrum Therapeutics Launched with $55 Million to Reactivate the Fragile X Gene
A new company has launched that will invest tens of millions in reactivating the Fragile X gene. With $55 million in investment funds, Fulcrum Therapeutics in Cambridge, MA, aim to develop small molecules to control gene expression. These potential new treatments would be based on controlling genetic on- and off-switches of disease genes. Fulcrum will start with two diseases: Fragile X syndrome and a rare form of muscular dystrophy. FRAXA is funding one of the founding scientists, Jeannie Lee, MD, PhD, of Harvard University, and has been working with others on the new Fulcrum team.
New compound from Anavex Improves Learning and Behavior in Fragile X Mice
A potential new treatment for Fragile X syndrome is showing promise. While still early in development, the investigational drug was able to improve intellectual, learning and hyperactivity measures in a mouse model of Fragile X syndrome. Anavex 2-73 is a sigma-1 receptor agonist being developed for autism spectrum disorders, including Rett syndrome and Fragile X syndrome, and for Alzheimer’s disease. Anavex Life Sciences presented the data at the Gordon Research Conference for Fragile X and Autism-Related Disorders, held June 5-10, 2016 in Mount Snow, VT. The study was sponsored by FRAXA, via the FRAXA Drug Validation Initiative, and performed by Fraunhofer Chile Research, in Santiago, Chile.