Academic Hospitals & Non-Profit Organizations Disease FoundationCincinnati, OH
Rettsyndrome.org’s purpose is to transform the lives of all those affected by Rett syndrome. Through the relentless pursuit of advanced and comprehensive research, we work to deliver treatments and ultimately a cure for this disorder. We never forget that Rett syndrome impacts the entire family and we empower our families with the tools they need on their journey. As the world’s leading private funder of Rett research, we have funded more than $44 million in peer-reviewed research grants and programs to date. We have also invested over $10 million in family programs and services to date.
Rett syndrome is a rare, non-inherited genetic neurological disorder that occurs almost exclusively in girls and leads to severe impairments, including seizures, scoliosis, and digestive difficulties. It affects nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Children with Rett syndrome understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.
1. Clinical Trials and Research – Rettsyndrome.org has supported 5 human clinical trials for Rett syndrome. In addition, they have supported the Natural History Study (NHS) from the very beginning – bringing the clinicians and experts to study Rett syndrome in U.S. sites for over 12 years so they could learn to understand the disease and its progression over time. The NHS is the largest physician hands-on direct patient powered study ever in the history of Rett syndrome.
2. Translational Research – Rettsyndrome.org was the first to support a standardized Preclinical Program – the Scout Program- which accelerates the testing of drugs that could correct biochemical pathways associated with Rett syndrome. To date, two compounds moved forward to advanced preclinical testing, one is in consideration for clinical trial planning, one is in active clinical trial planning, and one is being studied in a current clinical trial. Rettsyndrome.org believes in failing fast and advancing safely.
3. Neuro-Habilitation Research – First and only foundation to stand-up a strategic program in this arena. These programs, which help with quality of life, are geared at fast and efficient physical therapy and occupational therapy – therapies that are prescribed to help maintain and improve motor skills today, as well as to support the research interventions that are in development.
4. Basic Science Program – Rettsyndrome.org started this program over 20 years ago to find new discoveries – like the identification of the gene associated with Rett syndrome - MECP2. Continuous non-stop funding, through all economic cycles good and bad, has funded research at understanding the molecular and cellular pathways that go awry in Rett syndrome, and push into treatment avenues that are uncovered by these basic discoveries.
5. Fellowship Program – Rettsyndrome.org is the only organization to have a formal fellowship to recruit and support new young talented investigators to continue a legacy of A-class research. A complex disorder like Rett syndrome needs next-gen talent to help solve this challenge, and Rettsyndrome.org is finding that talent.
6. Family Empowerment - Having a cohesive database, state rep volunteers, and educated, eager families in our ecosystem draws the research community to us.