Charles Laird, Ph.D., —Fred Hutchinson Cancer Research Center
Diagnosing the Methylation Status of the FMR1 Promoter Region in small numbers of Cells

Charles Laird, Ph.D., Principle Investigator (1996)
Reinhard Stoger, Ph.D, Postdoctoral Fellow (1996)

FRAXA Awards:

$25,000 in 1996


In Fragile X syndrome, the FMR1 gene does not produce its protein because the promoter region of the gene is methylated. " A potential therapeutic approach in treating individuals with this syndrome is reactivation of the endogenous gene by the use of demethylating pharmaceuticals".
Methylation Studies of the Fragile X Protein

by Dr. Stoger, 7/1/1997

I have examined methylation sites of the FMR1 gene in great detain. Each of these sites has a different probability of becoming methylated. Those sites that are less frequently methylated than average are of particular interest to me, because they point to regions of the FMR1 Gene where removal of methyl groups may be initiated.

My goal is to attempt to reactivate the methylated FMR1 gene and find a way to remove the signal that keeps the gene inactive.Within the next few months, I will try to identify factors that can reduce the frequency of certain sites becoming methylated. Finding such factors may lead to a specific strategy to reactivate FMR1 and ultimately to a potential therapeutic approach to treating individuals with fragile X syndrome.