FRAXA's mission is to find effective treatments and a cure for all children and adults with Fragile X, by directly funding the most promising research.
As the pace of Fragile X research accelerates, the prospects of finding effective treatments and a cure
for Fragile X continue to improve. FRAXA-funded researchers at universities around the world are
leading the way.
FRAXA's current research portfolio spans the full spectrum of basic science, pre-clinical, and
clinical research -- all coordinated to make the most of each research dollar.
We maintain a diversified approach, developing several treatment strategies in parallel,
since success is never certain in developing a single drug. We continue to fund research to
define the precise defect in the Fragile X brain, because these basic studies may yield additional
important therapeutic targets. FRAXA also organizes and sponsors
conferences
where Fragile X
researchers share their results and plan collaborations, and where new researchers are recruited.
We are often asked "What is the research most likely to lead
to better treatments for Fragile X in the near future?" While no one can foresee the future,
we are optimistic that the mGluR Theory of Fragile X will lead to treatments for Fragile X and for autism.
The first step towards a cure is to fully understand the cause of Fragile X. In the words of
Nobel Laureate James D. Watson, the 1991 discovery of the Fragile X gene "was the first major
human triumph of the Human Genome Project." Researchers now know that this gene shuts down in
people with Fragile X, and the result is that brain cells don't communicate normally. In fact,
there is actually too much of a certain kind of learning; in scientific jargon this is termed
mGluR-LTD. Researchers have found that excessive mGluR-LTD may be common to many forms of
autism spectrum disorders.
The really exciting part of this discovery is that it is possible to intervene in this hyperactive
brain mechanism. Compounds exist which dampen the mGluR pathway, and some of these drugs are being
developed by major pharmaceutical companies for other indications, like anxiety disorders.
This discovery has led us to the threshold of treatment for Fragile X, and possibly for autism
as well.
FRAXA-funded scientists are currently testing several drug strategies for toning down this excessive
activity. Animal studies are in progress, several human Fragile X trials of new compounds are being
planned, and a clinical trial of one drug which acts on mGluR pathways - lithium -- is underway.
