GENETIC ENGINEERING: GENETIC DISEASES

The Fragile X Syndrome

The basic problem in Fragile X Syndrome is that brain cells have a
defect in a gene (FMR1) such that this gene cannot produce its normal
product, the fragile X protein (FMRP). Without FMRP, probably at least
in part due to its roles in development, brain cells cannot
communicate cleanly with each other. This underlies the learning and
behavioral challenges seen in fragile X syndrome. Potential
therapeutic approaches are:

1. Fix the gene so that it can make its normal protein

2. Gene Therapy
3. Make and deliver the protein by some other means.
4. Substitute for the function of the protein.
5. Treat the symptoms of fragile X.

Currently, treating symptoms is the only option available, and the
available interventions -- drugs, special education, psychological
counseling -- are of limited help. FRAXA's goal is to do more. We fund
scientists who are pursuing each of these four approaches. Much of the
work is collaborative, as no single research team has the full range
of technical skills to address all of the issues involved in
developing treatments.