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DSRTF Awards New $250,000 Extension of Research Innovation Grant to Johns Hopkins School of Medicine Researchers
November, 2008

The Down Syndrome Research and Treatment Foundation (DSRTF) announces the award and funding for a new $250,000 extension for 2008-2009 of the DSRTF Research Innovation Grant to researchers at Johns Hopkins University School of Medicine. This additional new grant funding will significantly extend and continue the research progress begun under the 2007-2008 DSRTF Research Innovation Grant. The Johns Hopkins Down Syndrome Research Group is now pursuing two promising avenues toward therapeutic approaches for Down syndrome.

First, Principal Investigator Roger H. Reeves, Ph.D., Professor, Department of Physiology and McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins School of Medicine, will continue to advance the investigation of a novel potential therapeutic target involving neurogenesis (nerve cell growth and development) to ameliorate cognitive impairment in Down syndrome. Based on the discovery by Dr. Reeves and his colleagues that specific neuronal cell populations in a Down syndrome mouse model have a reduced response to a specific signaling growth factor, termed Shh, which results in less growth of specific brain regions, his research group is treating these mouse models with drug compounds that stimulate the Shh pathway. They are assessing whether neurogenesis, i.e., brain growth and development, in the cerebellum and hippocampus is restored to the expected pattern and produces measurable positive effects on brain functions, including learning and memory.

Second, with this new DSRTF grant support, a new researcher and co-Principal Investigator, Constance Smith-Hicks, MD, PhD, Instructor, Department of Neurology, and her mentor Paul Worley, MD, Professor of Neuroscience, add an exciting new second avenue in the search for effective therapies to improve cognition in individuals with Down syndrome. Drs. Smith-Hicks and Worley have discovered evidence suggesting that the expression of the Arc gene is dramatically increased in the hippocampus in a Down syndrome mouse model, even though the Arc gene is not located on human chromosome 21. Tightly regulated changes in the expression of Arc play a crucial role in hippocampal-based learning and memory. Its over-expression can result in many of the features that are classically described in Down syndrome central nervous system, including changes in synaptic structure. Under this new DSRTF grant the researchers are working to understand how the Arc gene becomes mis-regulated, explore mechanisms that might restore normal function in nerve cells and identify potential therapeutic agents for use in the treatment of cognitive features of Down syndrome.

“With this new DSRTF Research Innovation Grant extension, DSRTF continues to execute a major paradigm-shift in Down syndrome research through promoting and assuring new collaborations, attraction of new world-class research talent and rapid response to nurture and fund major new discoveries,” says Dr. Michael Harpold, Chief Executive Officer of DSRTF. “The continued funding of these Johns Hopkins School of Medicine researchers through this significant new grant, now totalling $500,000, not only allows this promising research to advance the evaluation of potential new drugs, but also enhances the momentum for discovering additional new drug targets at an unprecedented level.”

Since its founding in 2004, DSRTF has generated more than $4 million to fund and support major new results-driven research programs at Stanford University School of Medicine and University of Arizona in addition to Johns Hopkins University School of Medicine. This represents part of the targeted expansion of the Foundation's strategy to stimulate and facilitate the most promising biomedical research that will accelerate development of treatments to significantly improve cognition, including memory, learning and speech, for children and adults with Down syndrome. “DSRTF recognizes these significant new and continuing research initiatives and advances would not be possible without the generous financial support of the Foundation's donors, and DSRTF is extremely grateful to all those making this important research possible,” says Dr. Harpold. “The Foundation is dedicated to significantly increasing its annual research grants funding by continuing to build close partnerships with individuals and groups within the Down syndrome community and beyond. Our hope is that these partnerships will further accelerate the development of effective new therapies to improve cognition and create new opportunities, including the potential for greater independence and achievement, for all individuals with Down syndrome.”