About Rett Syndrome and RSRT
About Rett Syndrome
Rett Syndrome is the most physically disabling of the autism spectrum disorders and the leading cause of severe genetic impairment in females, with an estimated 16,000 individuals afflicted in the U.S., and more than 350,000 worldwide. Classic Rett Syndrome affects females almost exclusively. Symptoms typically begin to appear in little girls between infancy and two years of age. Onset may be heralded by hypotonia and delayed development, or by regression and loss of acquired skills, including speech and functional hand use. As the disorder progresses, symptoms may include disordered breathing, sleep disturbances, severe digestive problems, orthopedic abnormalities, anxiety, apraxia, seizures, impaired cardiac and circulatory function and Parkinsonian tremor. Many children with Rett Syndrome are wheelchair bound. Most victims survive well into adulthood; all require total, 24-hour-a-day care. The cost, both financial and in terms of human suffering, is enormous.
There is no treatment beyond supportive, and often ineffective, measures such as feeding tubes, bracing, orthopedic and GI surgeries, and medications for anxiety and seizures. Even though the prevalence of Rett Syndrome equals that of Cystic Fibrosis, Huntingtons and ALS, it is vastly underfunded in comparison.
About the Rett Syndrome Research Trust (RSRT)
The stakes are high. Our efforts aim higher.
RSRT was launched in 2008 to drive research toward a cure for Rett Syndrome and related MECP2 disorders. Our mission is urgent: 15,000 girls and women in the United States and 350,000 globally live with the agonizing symptoms of Rett Syndrome.
RSRT funds more research than any other Rett organization in the U.S. and abroad. Since 2008, RSRT has awarded $66 million to research. An average of ninety-six percent of every dollar donated to RSRT goes directly to our research program. Keeping our internal team lean and fiercely motivated allows us to focus funds and energy on what matters most: healing our children as quickly as possible.
As one of the few neurological disorders to show dramatic symptom reversal in mice, Rett Syndrome has attracted unprecedented interest from university and pharmaceutical scientists. Through innovative research and constant engagement with scientists, clinicians, industry, investors and affected families, RSRT is at the epicenter of this activity.
We do more than just write checks: we are changing the landscape of Rett research. We set the research agenda by proactively identifying and monitoring promising therapeutic areas, seeking out scientific and industry partnerships and working closely with them to advance programs through the drug development pipeline. We are risk takers who do not shy away from bold and innovative projects unlikely to be funded by the NIH or other more conventional funding agencies.
We believe Rett Syndrome can be cured, but time matters. A rigorous, coordinated, and agile research agenda will get us there as quickly as possible. Our ultimate goal is to become obsolete – by finding a cure.
For more information about RSRT, please visit www.reverserett.org.