Driving Directions:
From the South: I-26 West to I-40 West toward Knoxville, Exit 44. From the North: US 19-23 South to I-240 West to I-40 West, Exit 44. From the East and West: I-40 to Exit 44.

 At Exit 44, turn left at stoplight and proceed one mile straight ahead past the hotels and shopping centers. Follow Asheville School signs to our driveway on the right.

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[Be sure to indicate you are donating for "Cash for a Cure"]

What Causes Fragile X?

In 1991, scientists discovered the gene that causes Fragile X Syndrome.  In individuals with Fragile X, this one gene (called FMR1) is shut down.  It cannot manufacture the protein it normally makes-- a protein vital for normal brain development.  Fragile X is the most common inherited cause of mental impairment in the world.  It is also the most common know cause of autism.  Fragile X can be passed down through generations in a family before a child is born iwith a fully defective gene.  Carriers can also have symptoms:  some older men will be impaired by Fragile X- associated Tremor Ataxia Syndrome (FXTAS) and some women are at risk for early menopause.  This is why testing is so important.  A simple DNA test can predict a woman's chance of having a child with Fragile X, and it can be used to diagnose carriers and affected individuals.  There is no cure for Fragile X.  THe cost to society for treatment, special education, and lost income is staggering.  The emotional toll on families is boundless.

What We Know:

One gene in the brain is shut down, causing Fragile X.  The gene FMR1 stops producing a protein necessary for development.  This one gene defect is carried by one in 260 women and affects on in 4000 boys and one in 6000 girls.  Most carriers are unaware of their carrier status until a child is diagnosed with Fragile X.  It is estimated that 80% of those with Fragile X have not yet been diagnosed.  Results from Fragile X research could lead to cures for such conditions as sutism, anxiety disorders and manic-depressive illness.

The Need for Research Is Urgent

FRAXA-funded research has achieved a breakthrough:  scientisis have found a brain pathway (mGluR) which is defective in Fragile X and implicated in autism.  Experimental compounds exist which target this pathway.  FRAXA-funded studies have shown that these compounds can treat symptoms in Fragile X mouse and fly models.  FRAXA is working with university and pharmaceutical researchers to bring one or more of these compounds into clinical trials.  Because lack of the Fragile X protein seems to delay development rather than damage brain cells, it is likely that treatments being investigated will benefit all people with Fragile X, regardless of age.

FRAXA Research Leads to Orphan Drug Designation

For the first time, a compound being developed to treat Fragle X has received an Orphan Drug Desingation from the Food and Drug Administration (FDA).  In collaboration with FRAXA, Neuropharm Group intends to develop fenobam to treat Fragile X syndrome.  Neuropharm Group PLC is a United Kingdom based pharmaceutical company focused on developing treatments for central nervous system disorders.  The FDA has granted Neuropharm an Orphan Drug designation for the use of fenobam in Fragile X.  The U.S. Congress passed the Orphan Drug Act in 1983 to accelerate developent of treatments for rare diseases, defined as affecting 200,000 or fewer people in the U.S.  Fragile X affects almost 100,000 US residents.

Asheville Families Affected By Fragile X

August 24, 2007

Dear Friends,

            As some of you already know, this past year has been a hard one for us.  Last August we discovered that our family carries a genetic disorder called Fragile X.  While many of us are affected in variable ways, our youngest child is at present the most severely affected.  Fragile X is the most common inherited cause of mental impairment and the most common known cause of autism in the world.  We, however, did not know much about it before this year and have discovered that not many people in our area are familiar with it either.  Even finding therapists and physicians who have some experience with it has been difficult.  However, we are very excited about some new medical discoveries that are coming out.  Because our youngest child has just turned two, he could potentially benefit from the drugs that are being developed.

            A parent supported non-profit research group called FRAXA is trying to raise $500,000 by November 1st in order for this money to be matched by a charitable organization.  You’ll find details about this “Doris Buffett Challenge” included with this letter.  We are inspired about a Johnny Cash Tribute concert here at Asheville School which will feature a local, professional band in order to raise money and awareness about this genetic disorder.  We know most of you cannot come to this gathering, but we thought you would want to know what has been going on in our lives and you might want to contribute to the “Cash for a Cure” concert.  Last year was a dark time for us, but this new research, this offer of half a million dollars, and a fun night of music seems to offer a new light.

                                                   In Hope,

                                                   Parent of a child with Fragile X