- AFFECTED POPULATION:
- This neurological disorder strikes young girls of all racial and religious backgrounds. Roughly 1 in 10,000 girls suffers from Rett Syndrome - that is, an estimated 13 girls a day are born with this disease, many of whom go undiagnosed.
- NO TREATMENTS:
- Because there is still no treatment or cure, most girls suffering from Rett Syndrome become profoundly disabled (cognitively and physically) by age two, after beginning life on a normal course of development.
- Its symptoms typically include seizures, gastrointestinal distress, breathing abnormalities, scoliosis, severe motor control problems, as well as the loss of speech and purposeful hand use.
- Rett Syndrome results from a sporadic mutation on the MECP2 gene on one of the X-chromosomes. A regulatory gene, it is thought that the mutated MECP2 gene fails to fulfill its role in silencing other genes through a process called DNA methylation.
- SCIENTIFIC MILESTONES:
- Scientists discovered the gene that causes Rett Syndrome in the fall of 1999 and subsequently developed mice models to experiment with treatments. These have been two crucial milestones for zeroing in on a cure.