GENETIC ENGINEERING: GENETIC DISEASES

The Fragile X Syndrome

Gene Therapy

Gene therapy aims to deliver a new, working copy of the fragile X gene
to brain cells so that the gene will function normally, producing its
normal protein. Since all the symptoms of fragile X arise from the
lack of FMRP, this in principle could "cure" the syndrome. Gene
therapy has received a lot of attention in the press because although
it has great potential, there are no reports of clinical success with
this technique in the human brain. FRAXA is funding several
investigators who are working out basic details using tissue cultured
nerve cells before attempting anything with intact brains, including
Mario Rattazzi, David Bloom, and Robert Bauchwitz.