GENETIC ENGINEERING: GENETIC DISEASES

The Fragile X Syndrome

Fixing the Gene:

Turn on, or replace, the gene in the appropriate cells.
In people with Fragile X, the FMR1 gene is present but switched off
(methylated) by a mutation in the DNA which controls activation of the
gene. The gene itself is functional and could, theoretically, be
switched on. One challenge is to target the FMR1 gene selectively,
without turning on other genes which are supposed to remain off. It is
also possible that too much Fragile X protein or expressing FMRP in
the wrong cells may be toxic. So, we are funding research to evaluate
these approaches in animal models, including mice and fruit flies, and
in tissue culture.