Impact of the Fragile X Community

At FRAXA Research Foundation, we are truly grateful for our fragile X community and thousands of donors. We couldn’t keep moving the ball forward in research without your support. Each year FRAXA invests over $1 million in fragile X research thanks to your support. Because we supported these three researchers, we were able to secure another $35 million in research aimed at identifying clinical trial outcome measures that will lead to human trials of promising treatments for those affected by fragile X.

Todd-Haenfler

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.”

Craig Erickson lab

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