What is Fragile X Syndrome? The Theory which Drives Current Research into a Cure

What is the research most likely to lead to 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.

Nobel Laureate James D. Watson, remarked that the 1991 discovery of the Fragile X gene was“the first major human triumph of the Human Genome Project.”

Because this gene shuts down in people with Fragile X, 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 exciting part of this discovery is that it is possible to correct this hyperactive brain mechanism.

Compounds which dampen the mGluR pathway are in development by major pharmaceutical companies. Clinical trials are in progress now, and open to participants who have Fragile X.

We are on the threshold of treatment for Fragile X, and possibly for autism as well. FRAXA-funded scientists have tested several drug strategies for toning down this excessive activity. Clinical trials of several experimental new compounds are underway.