Rett syndrome is an X-linked, progressive, neurodevelopmental disorder. Rett syndrome has an estimated worldwide incidence of 1 out of every 10,000-15,000 live female births, making it one of the most common genetic causes of developmental and intellectual impairment in females. The incidence in males is currently unknown.
Rett syndrome is caused by mutations in the MECP2 gene that lead to deficiency of the methyl cytosine binding protein 2 (MeCP2), an important protein responsible for normal function in the brain and other parts of the nervous system. Females with Rett syndrome typically have normal development up until 6-18 months of age. However, females then experience rapid regression of previously acquired milestones including speech, gross and fine motor skills, and develop stereotypical, repetitive hand movements that prevent them from purposeful hand movement or function. Over time females may develop muscle contractures, rigidity, and debilitating scoliosis, along with periods of recurrent seizures, burdensome gastrointestinal abnormalities, breathing abnormalities and cognitive decline.
Although there are treatments available for Rett syndrome, a significant unmet need still exists for new treatment options.
Rett Syndrome Research Trust
The Rett Syndrome Research Trust has a singular mission: a cure for Rett syndrome. Our remarkable progress is made possible by the support, passion, and commitment of Rett families around the world.Learn More >>
International Rett Syndrome Foundation
To accelerate full spectrum research to cure Rett syndrome and empower families with information, knowledge and connectivity.Learn More >>
Reverse Rett is a patient advocacy and research organisation focused on delivering treatments and a cure for Rett syndrome to everyone affected.Learn More >>
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