The Rett Syndrome Research Foundation (RSRF, or the Foundation) was created in the fall of 1999 by six parents of girls with Rett syndrome. Their vision is to find a treatment and cure for Rett syndrome, a devastating neurological disorder that deprives girls of communication and motor skills. The non-profit 501(c)(3) foundation is raising money to promote and accelerate biomedical research on Rett syndrome, seeking to capitalize on the recent discovery of the gene mutation responsible for the condition. The founders hope to ensure a brighter future for all girls and women with the disorder. All research proposals seeking funding from the Foundation are reviewed by its distinguished Scientific Advisory Board, under the chairmanship of Dr. Michael Hayden. With leading scientists serving as advisers, a group of strongly motivated founders and a generous start-up grant, the Rett Syndrome Research Foundation intends to press aggressively for progress against a little-known but devastating disorder that has damaged thousands of lives around the world.
WHO WE ARE
Our VisionThe Rett Syndrome Research Foundationís vision is a cure for Rett syndrome.
Our MissionThe Rett Syndrome Research Foundationís mission is to fund, promote and accelerate biomedical research for the treatment and cure of Rett syndrome.
Our ObjectivesTo fund grants for biomedical research
To recruit and fund post-doctoral fellows
To sponsor symposia for the scientific community
To recruit biotechnical and pharmaceutical companies to investigate and develop treatments for Rett syndrome
To support tissue, cell and brain banks
To foster collaboration among researchers
To advocate for increased government funding of Rett syndrome research
To raise awareness of Rett syndrome in the medical community
To disseminate current research information
Rett syndrome (RS) is a neurodevelopmental disorder affecting 1 in 10,000 females. It is named for Dr. Andreas Rett, an Austrian physician who identified the syndrome in 1966, although it remained unknown in the United States until 1983.
About Rett Syndrome
SymptomsGirls with Rett syndrome appear to develop normally until six to 18 months of age. They then enter a period of regression, losing speech and hand skills they had acquired. Most girls develop seizures, repetitive hand movements, irregular breathing, and motor control problems*. A slowing of the rate of head growth also becomes apparent. Most researchers agree that RS is a developmental disorder rather than a progressive, degenerative disorder. The girls can live to adulthood, but most never regain the ability to use their hands or to speak.
CauseIn 1999, a research team lead by Dr. Huda Y. Zoghbi of the Howard Hughes Medical Institute and Houstonís Baylor College of Medicine identified the cause of Rett syndrome as a defect on the MECP2 gene on the X chromosome. Rett syndrome is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay. Genetic testing is now available to confirm the diagnosis. *Not every female with RS displays all of the symptoms and individual symptoms may vary in severity.
The Rett Syndrome Research Foundation was established in December, 1999
Vision: The cure for Rett syndrome
Mission: To fund, promote and accelerate biomedical research for the treatment and cure of Rett syndrome
Founders: Monica Coenraads, Wendy Friedman, Cory Henkel, Anna Luce, Gordon Rich and Jeanne Sinclair
Gordon Rich, President
Monica Coenraads, Vice President of Research
Thomas Sinclair, Secretary
Jeffrey Stagnaro, Treasurer Address: 4600 Devitt Drive Cincinnati, OH 45246
Web Address: www.rsrf.org