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.

Basic Mechanisms of Disease and Potential Therapeutic Strategies

With $245,000 in grants from FRAXA Research Foundation, Dr. Stephen Warren and his lab at Emory University studied all aspects of fragile X syndrome, from the mechanisms of repeat expansion to high-throughput drug screens in the Drosophila model of fragile X. The Warren lab made the original discovery of the fragile X gene, FMR1, in collaboration with the Nelson and Oostra labs, and is recognized internationally as a leader in molecular genetics. Recent projects include establishment of induced pluripotent stem cell lines from fragile X patients, and determination of other forms of mutation in the fragile X gene, other than the most common trinucleotide repeat expansion.