International Rett Syndrome Association - IRSA
irsa@rettsyndrome.org
www.rettsyndrome.org/ 
Other Contact Information
9121 Piscataway Road
Suite 2B
Clinton,
MD 20735
800-818-RETT (Voice - Toll-free)
301-856-3334 (Voice)
301-856-3336 (FAX)
Description
As the most comprehensive worldwide organization dedicated to Rett syndrome, the International Rett Syndrome Association proudly continues its eighteenth year providing important programs of: information and support to parents; research support through direct funding and lobbying for increased federal funding; and increasing public awareness of this disorder.
Rett syndrome is a brain disorder, which appears primarily in females after a period of early normal development until six to 18 months of age. A period of regression follows during which acquired speech and hand skills are lost, and seizures, repetitive hand-wringing or hand-washing movements, irregular breathing and motor-control problems develop. Those with RS can live to adulthood, but most never regain the ability to use their hands or to speak. Recent research has led to an estimated incidence of 1 in 15,000 live female births.
In October of 1999, the discovery of genetic mutations in the gene MECP2 on the X chromosome (Xq28) revealed significant insight into the cause of Rett syndrome. This gene encodes an abundant chromosomal protein (MeCP2), which acts as a transcriptional repressor by binding to methylated CpG base pairs throughout the genome and silencing other genes. Rett syndrome is thought to arise in great part due to abnormal over-expression of genes improperly regulated by a defective MeCP2. This is the first instance of a human disease caused by defects in a protein whose function is to silence other genes. Continued research is now focused on still unidentified genetic factors which may contribute to RS.
Print Resources
IRSA maintains and distributes reprints and a bibliography for health professionals and families. Serial publication: Newsletter, quarterly.
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