FRAXA Research Foundation focuses on research which is likely to lead to new and improved treatments — and ultimately a cure — for Fragile X syndrome, with an emphasis on disease-modifying therapeutics based on understanding of Fragile X disease mechanisms. Every year we receive proposals from scientists worldwide seeking funding for the most cutting-edge Fragile X research.

Our goal has always been to accelerate the pace of research by eliminating “bottlenecks” in this long and complex process. Our funding priorities are determined by the state of the research and the nature of these bottlenecks, so we constantly re-examine these priorities as the field progresses.

In FRAXA’s early years, little was known about basic disease mechanisms, so we placed great emphasis on funding basic research to understand the pathophysiology of Fragile X. Research in the Fragile X field was initially the province of molecular biologists and geneticists, so bringing more neuroscientists into the research community was a high priority. These past efforts have been quite successful, generating detailed insights into the basic biology of Fragile X. Fragile X and the normal function of FMRP are both hot topics in neuroscience today. Thus, basic research into Fragile X disease mechanisms can no longer be considered a bottleneck and is now a lower priority for funding.

Other past bottlenecks, such as poor antibodies to FMRP and difficulties obtaining animal models, have been resolved by specific resource grants by FRAXA (some continuing to the present). This has enabled an explosion in translational research in Fragile X, leading to many promising therapeutic strategies in the works.

However, this also had the net effect of moving the bottleneck further down the road, to the preclinical validation stage of the development process. In response, FRAXA has developed new methods of validating promising drug treatment strategies in a standardized manner, with vastly greater efficiency. We are now less likely to fund academic labs for years on end to test one particular drug strategy — this approach, though appropriate in the past, is too inefficient today. With the bottleneck at the preclinical validation stage of development essentially resolved, the new bottleneck down the road is now clinical trials.