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Treatment for Rett Syndrome Moves a Step Closer as Rett Syndrome Research Trust Commits Record $4.2 million in 2012
Date:2/14/2013

Trumbull, CT (PRWEB) February 14, 2013

The Rett Syndrome Research Trust (RSRT) affirmed its mission to drive innovative science by awarding $4.2 million in 2012. This amount represents the largest research commitment in a given year ever allocated by a Rett organization. The awards were made possible by the fundraising efforts of highly motivated families and supporters of children and adults with Rett Syndrome in the US, and through our global partnership with Rett Syndrome Research Trust UK and Rett Syndrome Research & Treatment Foundation (Israel).

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.

“Our goal is not to fund research but to fund results. Ultimately, the measure of our success will not be in terms of dollars spent but whether we will have dramatically improved the quality of life of the people we serve – children and adults with Rett Syndrome. We believe the projects we chose to support in 2012 will help us achieve that goal,” said Tony Schoener, Chairman of the Board of RSRT.

RSRT awarded funds in 2012 to the following projects:

  •     $2.2 million was awarded to Benjamin Philpot at the University of North Carolina at Chapel Hill and his collaborators, Bryan Roth and Terry Magnusson. Their bold project is a screening initiative to identify compounds able to reactivate the silenced but healthy MECP2 gene on the inactive X chromosome. RSRT has championed this approach since the game-changing discov
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