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, IRSF has invested more than $32 million in research programs leading to discoveries that allow us to test treatments for Rett syndrome in human clinical trials today. These grants are primarily focused in areas of research with the greatest impact on lives today, with special attention to areas under supported by others. Through careful strategic planning and thorough peer review process, we identify and fund the best Rett syndrome science available with the ultimate goal to develop treatments that will modify the pathology associated with Rett syndrome. Today, in addition to the current basic, translational, and clinical research we support, IRSF is expanding our research platform to reach physical, occupational, speech, and cognitive therapy tools to aid in the everyday activities of those living with Rett syndrome and to improve abilitation once effective pharmacologic therapies are identified.
Steve Kaminsky, IRSF Chief Science Officer says “Today much of the discovery based research shows that reversal of abnormal Rett biology is possible through both genetic and pharmacologic intervention. But we must also prioritize the development of forward looking abilitation therapies. As we continue to bring these drug treatments into the clinic to correct the biology, we must push equally hard to discover the best methodologies to reset the neurology. These avenues of therapeutic intervention must converge as they are both fundamental to improving the lives of all of the girls and women with Rett syndrome.”