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. Although very rare, boys can also have Rett Syndrome.
Rett Syndrome is devastating because it deprives young children of speech, hand use, normal movement often including the ability to walk. As children enter childhood, the disorder brings anxiety, seizures, tremors, breathing difficulties, as well as severe gastrointestinal issues. 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.
Despite the debilitating nature of the disorder, our children are so much more than a laundry list of symptoms and disabilities. Their beauty and their strength inspire and motivate us to find a cure.
And a cure is possible! Rett Syndrome doesn’t have to be a life sentence.
Rett Syndrome stands apart from other neurological disorders due to the dramatic reversibility of symptoms in animal subjects.
Through extensive research a new gene therapy treatment has been identified with the potential to reverse the debilitating symptoms of Rett Syndrome and give back the lives of the 350,000 children affected by the disorder.
Your contributions make a tremendous difference in funding the research needed to develop clinical trials and find a permanent, genetic cure for Rett Syndrome.
HISTORY OF RETT SYNDROME & GENETICS 101
Mutations in a gene called MECP2 (methyl-CpG-binding protein 2) were identified as the cause of Rett Syndrome in 1999, in the laboratory of Huda Zoghbi, M.D. at Baylor College of Medicine.
First discovered by Adrian Bird, Ph.D., in 1990, MECP2 is a gene which produces a protein, also called MeCP2, which regulates the activity of other genes. In individuals with Rett Syndrome, this protein is not being produced by the body’s cells. In most cases, the damaged copy of MECP2 can be traced to a random mutation in the sperm chromosome.
The incidence of recurrence in a family is less than 1%.
While Rett Syndrome remains a clinical diagnosis based on the child’s symptoms and history, the identification of MECP2 has made DNA testing and confirmation possible for affected individuals and their families. To date, approximately 95% of girls with a clinical diagnosis of Rett Syndrome have a confirmed MECP2 mutation.
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