Trumbull, CT (PRWEB) January 28, 2014
Continuing to expand the depth and breadth of high-impact research, the Rett Syndrome Research Trust (RSRT) awarded a record $7.2 million to new scientific explorations in 2013. Since RSRT’s inception five years ago, the organization has committed almost $20 million to novel research and basic science to decode and defeat Rett Syndrome.
This investment is made possible through the enterprise of highly motivated families and supporters of children and adults with Rett Syndrome in the United States, and through our growing global alliances listed below. We are especially grateful for our partnership with Reverse Rett (UK), Rett Syndrome Research & Treatment Foundation (Israel) and the MECP2 Duplication Syndrome community.
Rett Syndrome is caused by mutations in a gene called MECP2 that causes numerous devastating symptoms that worsen over time. These begin to manifest in early childhood and leave Rett sufferers completely dependent on 24-hour-a-day care for the rest of their lives. While the function of MECP2 remains elusive we know that it acts globally and impacts numerous systems in the body.
RSRT stimulates, organizes and funds research to defeat this disorder via three essential approaches:
This past summer saw a flurry of high-profile papers published by RSRT-funded scientists. Among these was a study from Gail Mandel showing, for the first time, the reversal of multiple symptoms in adult female mice using gene therapy. Advancing to human clinical trials will require optimizing vectors, delivery routes and definitively ruling out the potential for toxicity due to overexpression of the MeCP2 protein.
To achieve those goals, RSRT launched the MECP2 Gene Therapy Consortium bringing together the labs of Gail Mandel and Stuart Cobb and their expertise in Rett /MeCP2 with those of Steven Gray and Brian Kaspar, with substantive vector design/development and gene therapy clinical trial experience.
RSRT’s original consortium, the MECP2 Consortium, organized in 2011 to address the function of MECP2, has had a highly successful first phase. Building on this momentum, RSRT has renewed funding for this unique international collaboration between the laboratories of Adrian Bird, Michael Greenberg, and Gail Mandel. RSRT is extremely grateful to its Board Chairman, Tony Schoener and his wife Kathy, for the initial million-dollar lead gift that launched this collaboration and their recent second million-dollar pledge to continue the work.
“Just as Rett research is gaining momentum, federal research dollars are declining, making the role of RSRT more essential than ever. If, like Kathy and I, you love a child with Rett and want nothing more than to see her restored to health, then I invite you to join us in our critical work,” says Tony Schoener.
“One of my prime responsibilities is to identify barriers to the development of therapeutics, troubleshoot and problem solve. Making progress by leaps rather than small incremental steps requires forging bold and innovative ways of conducting research that will maximize resources, save time and deliver results. We thank our donors for their trust and support. We look forward to reporting on our progress, ” says Monica Coenraads, Executive Director of RSRT.
A complete list of 2013 awards follows categorized by approach:
About Rett Syndrome
Rett Syndrome, the most physically disabling of the autism spectrum disorders, is caused by random mutations in the gene MECP2. Predominantly affecting girls, a frightening regression in toddlerhood robs children of the ability to speak, move normally and use their hands. Disordered breathing, Parkinsonian tremors, severe anxiety, seizures, digestive, circulatory and orthopedic problems typically appear. Although most children survive to adulthood they require total round-the-clock care.
About the Rett Syndrome Research Trust
The Rett Syndrome Research Trust is a non-profit exclusively devoted to global research on Rett Syndrome and related MECP2 disorders. Our goal is to heal children and adults who will otherwise suffer the effects of these disorders for the rest of their lives. To learn more about the Trust, please visit http://www.ReverseRett.org
Our partners in supporting this work are parents' organizations worldwide including Reverse Rett (UK), Rett Syndrome Research & Treatment Foundation (Israel), Skye Wellesley Foundation (UK), Rett Syndrome & CDKL5 Ireland, Stichting Rett Syndrome (Holland), Rett Syndrom Deutschland and American organizations, Girl Power 2 Cure, Eva Fini Fund at RSRT, The Kate Foundation for Rett Syndrome Research, Rocky Mountain Rett Association, Claire’s Crusade and the New Jersey Rett Syndrome Association and the MECP2 Duplication Syndrome Fund at RSRT.