Since the identification of the MECP2 gene in 1999, research on Rett syndrome has made important advances. Through research we have gained a greater understanding of the molecular mechanisms underlying Rett syndrome which result from MeCP2 dysfunction.
Scientific Research Has Yielded Some Exciting Developments:
- Numerous target genes have been identified that are regulated by the MeCP2 protein
- Genetic studies have begun to identify additional causative genes such as CDKL5 and FOXG1
- Valuable animal models have been developed that effectively reproduce the disease and demonstrate the potential reversibility of the disease
- Neurobiological studies have enabled us to determine some of the neurological underpinnings of Rett Syndrome pathogenesis
International Rett Syndrome Foundation (IRSF) has played a critical role in driving this progress forward through grant funding
Since 1998 we have awarded over $30M in direct support of research grants towards innovative basic and preclinical research. These grants are primarily focused on understanding the mechanisms that contribute to Rett syndrome and its associated complications.