FRAXA Research Foundation Works To Provide Hope To Families Struggling To Raise A Child, Or Children, With Fragile X Syndrome

Main Category: Neurology / Neuroscience
Also Included In: Autism;  Genetics
Article Date: 29 Jun 2007 - 0:00 PDT

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FRAXA Research Foundation is a parent run organization that funds research to find effective treatments and, ultimately, a cure for Fragile X. Fragile X is the leading inherited cause of mental retardation and the most common genetic cause of autism.

Fragile X is caused when a gene fails to produce a single protein necessary for normal brain function. There is a 50% chance of inheriting the Fragile X gene when one parent is a carrier. As parents of children with Fragile X, we understand first-hand the stress Chris Benoit and his wife might have been coping with. At birth many children with Fragile X seem normal and are often not diagnosed until two or three years of age when the child fails to meet typical developmental milestones. The initial shock of learning that your child is mentally impaired, followed by the continued emotional and financial strain of finding appropriate schools, child care and therapies can be an overwhelming emotional and financial burden for many families. Some of the symptoms Fragile X can cause are -- severe anxiety, impaired learning, debilitating sensory integration problems, very limited (or possibly no) speech, obsessive compulsive behaviors, and even seizures -- making day-to-day life extremely challenging. Most children with Fragile X have a normal life expectancy creating an added burden on parents to plan for their child's future.

FRAXA funds biomedical research, in the US and internationally, aimed at treating and curing Fragile X. Currently FRAXA has numerous treatments for Fragile X in development in collaboration with pharmaceutical companies worldwide. FRAXA's basic research, like the recently announced therapeutic potential of PAK inhibition, points the way toward innovative drug therapies for Fragile X and related disorders like autism.

According to the Centers for Disease Control, FXS affects 1 in 4,000 males and 1 in 6,000 females of all races and ethnic groups. The prevalence of autism ranges from 1 in 500 to 1 in 166 children. Currently there is no effective treatment for FXS and other types of autism.

FRAXA Research Foundation
http://www.fraxa.org

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