What is Rett Syndrome?

Rett Syndrome is a rare, severe neurological disorder that almost exclusively affects girls and has an occurrence of 1 in 10,000 females. There are currently 350,000 girls and women worldwide living with Rett Syndrome.  A diagnosis of Rett is devastating to a family. Those affected develop normally for the first twelve or eighteen months of life, many even learning their first words and taking their first steps.  Then at around the ages of 12-18 months old, they regress, sometimes over a period of just a few days or weeks, during which they lose their ability to walk and talk. A host of extremely painful and debilitating symptoms ensue.  They develop repetitive motions that render their hands and legs useless.  They can develop seizures, irregular breather patterns, scoliosis and gastrointestinal problems that often lead to the need for a feeding tube.  While their bodies suffer, it is believed that their cognitive abilities remain largely intact. Rett Syndrome has been described as having the symptoms of cerebral palsy, Parkinson’s disease, epilepsy, and anxiety disorder all in one child.  Although most girls survive to adulthood, they require total round the clock care.

Rett is caused by random mutations in MECP2, one of a class of master, or epigenetic, genes located on the X chromosome.  The “Rett” or MECP2 gene orchestrates the expression of hundreds of other genes, switching them on or off during different stages of normal development.  MECP2 plays a role in other neurological and psychiatric disorders as well, ranging from mild learning disabilities and anxiety to classic autism and childhood onset schizophrenia.

Until recently, it was accepted as fact that neurodevelopmental disorders are irreversible.  However, research on the MECP2 gene and Rett Syndrome has changed this assumption.  In 2007, a geneticist at the University of Edinburgh 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 in adult animals even in late stages of the disease.  This offered proof-of-principle that Rett Syndrome is a curable condition. In short, research on Rett Syndrome is both an urgent and a very promising cause.

Contact Us

We're not around right now. But you can send us an email and we'll get back to you, asap.

Not readable? Change text. captcha txt