FRAXA Annual Appeal Raised $760,000
Together we raised $760K and earned a $600K match from the Sunshine Lady Foundation, fueling hope for Fragile X treatments and a cure!
Meet Graham!
Meet #FriendofFRAXA Graham! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
CRISPR Reactivation of the Fragile X Gene
“We are trying to target the first event that goes wrong in Fragile X syndrome”, says Todd, “One reason our previous attempts to develop treatments for Fragile X syndrome have failed is that they’ve tried to target the downstream effects of losing the Fragile X protein. The protein does many things… bypassing all the functions that it normally takes care of has proven difficult from a pharmacologic perspective.”
$17,469 Raised by Friends of FRAXA Volunteers at Bruins Game
Over 50 #FriendsofFRAXA volunteers sold $34,938 in 50/50 raffle tickets at the Bruins game—raising $17,469 for Fragile X research!
Meet Makenzie!
Meet #FriendofFRAXA Makenzie! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Coming Full Circle – Kathy May Returns back to FRAXA
After 20 years, FRAXA co-founder Kathy May returns, saying, “There will be a cure. FRAXA is the reason for this hope.”
Effects of Metformin in Fmr1 Knockout Mouse Model of Fragile X Syndrome
Metformin, a safe diabetes drug, activates AMPK to rebalance protein synthesis. FRAXA-funded work investigated its potential to treat Fragile X.
Newly Discovered Regulatory Pathways in Fragile X
Studies at Yale University and elsewhere are showing that FMRP plays a significant role in the regulation of potassium channels. Looking forward, potassium channel opener drugs could rescue some symptoms of Fragile X in humans.
Drug Repurposing Study Results Accelerate Progress Towards Fragile X Treatments
While there are over 8,000 rare diseases affecting an estimated 350 million people worldwide, only around 200 of these conditions have effective treatments. Due to the high cost of developing new drugs, rare diseases have historically been less attractive to pharmaceutical companies. Drug repurposing systematically leverages the detailed information available on approved drugs and reduces the time and money needed to deliver safe “new” treatments, but with greater success rates and a potentially more immediate impact on health care.
In Their Own Words: Reports From the International Fragile X Workshop
The 18th International Fragile X Workshop in Quebec was a great success, featuring more Fragile X research than ever before!
Brain Imbalance Target of Dr. Erickson’s New Clinical Trial
According to Dr. Erickson, AZD7325 is a drug that selectively boosts GABA neurotransmission in the brain. GABA is the primary neurochemical in the brain that blocks brain activation. GABA activity is in balance in the brain with Glutamate activity, which is the primary neurochemical that causes brain activation. In Fragile X, GABA activity is insufficient and glutamate activity is excessive, likely causing brain activity to be out of balance. AZD7325 attempts to correct parts of this imbalance by boosting the insufficient GABA activity in the brains of people with Fragile X.
Fragile X in the Forefront of International Conference
The 18th International Fragile X Workshop kicks off in Quebec, uniting global scientists to share breakthroughs in Fragile X and ASD.
Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers
University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, explored drug combinations to limit hypersensitivity to sounds in Fragile X mice.
Quantitative Assessment of the Serotonin System in a Mouse Model of Fragile X Syndrome
FRAXA funded Dr. Canal to investigate how different serotonin receptors function in Fragile X, to guide smarter use of serotonin-targeting treatments.
Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells
FRAXA funded Dr. Peter Todd to use CRISPR to reactivate FMR1. Published results confirmed restored gene expression, a big step toward disease-modifying therapy.
Defining Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists
This study showed that selectively targeting mGluR5 receptors in specific neuronal compartments can correct distinct Fragile X synaptic defects, improving precision therapy.
Investigating Gene Reactivation to Treat Fragile X Syndrome
With a $180,000 grant from FRAXA Research Foundation, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome.
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!
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.