Rett Syndrome is a serious, lifelong neurological disorder resulting from alterations in a gene called MECP2. The gene makes a protein that is abundant in brain cells and controls the activity of many other genes. The disorder affects about 350,000 individuals worldwide.
Disease symptoms usually appear between 12 and 18 months of age and can include loss of speech, respiratory problems, motor deficits, seizures, and gastrointestinal and orthopedic issues. No cure exists, but studies in mice suggest that restoring healthy MECP2 protein function may dramatically reverse the condition.
The Rett Syndrome Research Trust has been laser-focused since its founding in 2008 on advancing research that will lead to a cure. A recently launched initiative, CURE 360, intensely focuses on six approaches that attack the disorder at its genetic core: gene replacement, gene editing, MECP2 reactivation, RNA editing, RNA trans-splicing, and protein replacement. CURE 360 also ensures that the research incubated at the Rett Syndrome Research Trust moves into biopharma for advancement to clinical trials.
Thanks to the fundraising and support of affected families and their networks, the Rett Syndrome Research Trust can pursue this research strategically and aggressively.
“We look forward to working with – and tapping into the knowledge of our Translational Medicine Advisory Board members, and are certain that with their expertise, we can accelerate our mission. We are incredibly appreciative and thank them for sharing their time and talents with us,” said Coenraads.
About the Rett Syndrome Research Trust
The Rett Syndrome Research Trust (RSRT) is a nonprofit organization with a highly personal and urgent mission: achieving a cure for Rett Syndrome and related disorders caused by defects in the MECP2 gene. The RSRT funds and spearheads global scientific and clinical activities advancing the most promising curative approaches. To date, every biopharma company pursuing a cure for Rett Syndrome is doing so because they leveraged discoveries and resources incubated with RSRT funding. To learn more, please visit www.reverserett.org.
About Rett Syndrome
Rett Syndrome is a genetic neurodevelopmental disorder that predominately affects girls. Its symptoms strike typically between 12 to 18 months of age. The disorder is caused by random mutations in the MECP2 gene on the X chromosome. Rett Syndrome is devastating, as it deprives young children of speech, hand use, and normal movement, leaving many individuals without the ability to walk or communicate. Symptoms can also include stress and anxiety, seizures, tremors, breathing difficulties, scoliosis, and severe gastrointestinal issues. Although most children survive into adulthood, every aspect of their daily living requires support. The impact on families and the health care system for specialists, corrective surgeries, therapies, and long-term care is significant.