Rett Syndrome Research Trust, Inc.

Imagine the symptoms of autism, cerebral palsy, Parkinson's, epilepsy, and anxiety disorders....all in one little girl

Now imagine these symptoms by one

This is the work of the Rett Syndrome Research Trust

We welcome  your commitment and support


About Rett Syndrome

Rett Syndrome is a genetic neurological disorder that almost exclusively affects girls. It strikes randomly, typically at the age of 12 to 18 months, and is caused by random mutations of the MECP2 gene on the X chromosome. Rett Syndrome is devastating as it deprives young girls of speech, hand use, and in most cases, normal movement and the ability to walk. As the girls enter childhood the disorder brings anxiety, seizures, tremors, and breathing difficulties. While their bodies suffer, it is believed that their cognitive abilities remain largely intact. Although most children survive to adulthood, they require total round-the-clock care.


A cure is possible

In 2007, University of Edinburgh Professor Adrian Bird demonstrated that mice terminally ill due to MECP2-deficiency become healthy again if the gene is restored.  This remarkable discovery proved that the Rett-like phenotype can be reversed even in late stages of the disease.  There is now proof that Rett is a curable condition.  But a significant investment in Rett research is needed to turn this promising result into treatments and a cure for girls and women with Rett. 


About the Rett Syndrome Research Trust

RSRT is a non-profit organization with a highly focused and urgent mission: eradicate Rett Syndrome and related MECP2 disorders. In search of a cure and effective treatment options, RSRT operates at the center of global scientific activity, funding bold projects that are unlikely to be supported by the NIH or other more traditional funding agencies. RSRT refutes the conventional practice of labs working in isolation, instead seeking out, promoting and funding collaborations and consortia in which scientists work across multiple disciplines. These relationships enable the development and execution of a research agenda that neither academia nor industry could achieve alone. Since 2008, RSRT has provided $25 million in support of: 4 clinical trials testing 3 compounds, 33 scientists in 27 academic institutions and 3 biotech firms.


Links to other disorders

Mutations in the "Rett gene" have also been found in individuals diagnosed with autism, learning disabilities, anxiety disorders, childhood onset schizophrenia, and other neuropsychiatric disorders.  Research on Rett will have far-reaching implications for a myriad of disorders.


MECP2 Duplication/Triplication Syndrome

Unlike Rett Syndrome which is caused by mutations or deletion in MECP2, the duplication or triplication syndrome is caused, as the name suggests, by having an area of the X chromosome which includes MECP2, erroneously duplicated or tripled. Families of these children together with RSRT have created the MECP2 Duplication Syndrome Fund at RSRT.  100% of all fund raised supports research on the duplication/triplication syndromes.