Co-Founder Kathy May Returns after Two Decades to Write Grants. It’s about discovering new forms of treatments to enhance the mental, emotional and social growth of those affected by fragile X. “And there will be a cure,” she said. “FRAXA is the reason for this hope. I have come full circle to FRAXA and feeling more hopeful than I have in many years.”
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.
With a 2017 grant from FRAXA Research Foundation of $90,000, Dr. Andreas Frick’s team at Neurocentre Magendie, in France, will test non-invasive imaging using magnetic resonance imaging (MRI) as a potential biomarker for future fragile X syndrome clinical trials.
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
The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words. These brief updates from researchers investigating fragile X.
To recognize and honor the efforts of my delightful grandson James, who with undaunted spirit has met the challenges of living with Fragile X, I plan to run the 2017 New York City Marathon.
Today the 18th International Fragile X and Related Neurodevelopmental Disorders Workshop kicks off in Quebec, Canada. For the next six days, scientists from around the world will gather at this workshop to focus on recent breakthroughs in our understanding of fragile X, autism spectrum disorders (ASD), and related neurodevelopmental disorders. This biennial meeting has been instrumental to the discovery of many disease-causing genes and the development of therapeutic strategies for these disorders.
The FRAXA Drug Validation Initiative (FRAX-DVI) provides speedy, cost-effective, objective testing of potential new fragile X treatments. FRAXA has funded FRAX-DVI for $50,000 in 2017.
With a $180,000 grant from FRAXA Research Foundation from 2016-2017, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in fragile X syndrome.
Over the past few years, both Novartis and Roche sponsored large-scale clinical trials of metabotropic glutamate receptor 5 (mGlu5) negative allosteric modulators (NAMs) to treat fragile X syndrome (FXS). With a $90,000 grant from FRAXA Research Foundation in 2015-2017, Dr. Mark Bear’s team will explore if mGlu5 NAMs dosed chronically causes tolerance, and if so, how it develops and to probe new avenues to prevent or circumvent it.
With a $180,000 grant from the FRAXA Research Foundation over 2011-2014, Dr. Yue Feng and Dr. Wenqi Li at Emory University will study CDK5 pathway function and regulation in an effort to break down whether and how CDK5 signaling is affected by the loss of the fragile X protein, FMRP, in the fragile X mouse model.