Date:2/14/2013

ery in 2007 that severe Rett-like symptoms in mice models can be reversed, even in late stages of the disease.

Benjamin Philpot explains, “If a drug could be identified to efficiently and effectively activate MECP2, we would be attacking Rett at its very root, with the potential of reversing the disorder. Our entire team is excited about the possibilities and we’re ramping up the project as fast as possible.”

•     $760K to Monica Justice’s lab at Baylor College of Medicine

Funding of ongoing experiment to identify modifier genes – meaning alterations in genes that can dampen the ill effects of an MECP2 mutation. It was expected that modifier genes would be rare and difficult to find, but with the screen 15% complete, five modifiers belonging to diverse biochemical pathways have already been identified. It is likely that many more modifiers are waiting to be discovered. RSRT has therefore made finishing the screen a high priority, and this award brings our total commitment to the project to $1.5 million.

•     $720K to Jonathan Kipnis at the University of Virginia

This is additional funding to enable a better understanding of the immune system’s involvement in Rett. The proposed research would for the first time examine the role of the immune system in tissue from individuals with Rett Syndrome and could provide a foundation for potential immune-system therapies. Previous work from the Kipnis lab suggested that bone marrow transplants could provide some degree of symptomatic relief. Funding of $55K was awarded to independently confirm the Kipnis data.

•     $240K to Huda Zoghbi of Baylor College of Medicine

Dr. Zoghbi’s project seeks to determine whether symptoms of MECP2 Duplication Syndrome can be reversed once the protein is brought down to normal expres
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