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 30,000 individuals afflicted.  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.

The Rett Sydrome Research Trust (RSRT) was publicly launched in September 2008 to pursue the next steps toward treatment and cures for Rett Syndrome.  RSRT's short-term goal is to bring novel therapeutics to clinical trials within five years.

The vision of the RSRT is guided by founders and advisors who have been responsible for many of the major advances in Rett research over the past decade.  The obvious and urgent question the Trust seeks to answer is whether symptoms can be reversed, and normal function restored, in people suffering with Rett Syndrome and MECP2 spectrum disorders.

RSRT is currently supporting key projects which not only offer the possibility of curing Rett Syndrome and related disorders, but may also identify drugs that could rapidly enter clinical trials to improve the lives of suffering individuals in the near term.   It is RSRT's intention to expand beyond these initial projects as soon as resources allow. RSRT committed $2.4 million of funding to Rett Syndrome research projects in 2008, more than any other Rett Syndrome non-profit organization in the world.  Importantly, 98% of every dollar donated was channeled directly to RSRT's research program.  For more information about RSRT, please visit www.reverserett.org.