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DSRTF Awards New $880,000 Research Center Grant to Stanford School of Medicine Researchers
April 21, 2008

The Down Syndrome Research and Treatment Foundation (DSRTF) is pleased to announce the award and funding for a major new $880,000 DSRTF Research Center Grant to researchers at the Center for Research and Treatment of Down Syndrome and Neuroscience Institute at the Stanford University School of Medicine.  This newly awarded DSRTF Center Grant significantly extends and builds upon the more than $2.8 million DSRTF has previously generated to support researchers at the Stanford Center since 2004. Past DSRTF support led to dramatic research breakthroughs in defining specific mechanisms responsible for cognitive impairment in Down syndrome and resulted in the identification of new potential drug targets for improving cognitive function.

The highly collaborative research programs funded by this DSRTF grant are directed by William Mobley, MD, PhD, Professor and Director of the Stanford Center and Neuroscience Institute; Craig Garner, PhD, Professor of Psychiatry and Behavioral Sciences; Daniel Madison, PhD, Associate Professor of Molecular and Cellular Physiology; and Isabella Graef, PhD, Assistant Professor of Pathology. The research projects include, 1) extending investigations on the role of a chromosome 21 gene, APP, in Down syndrome-associated neurodegeneration, early-onset Alzheimer’s disease pathology, and learning and memory impairment as well as the identification of potential drugs to ameliorate these effects; 2) collaborative studies converging to further elucidate the mechanisms resulting in excitatory and inhibitory neural circuitry imbalance in Down syndrome, how the reversal of this imbalance improves memory and learning, and the evaluation of potential drugs, including GABA inhibitors such as the previously identified PTZ, as a therapeutic strategy to reverse the inhibitory circuit-mediated cognitive impairment; and 3) new studies to identify additional potential drug targets through defining the role of over-expression of two other chromosome 21 genes, designated DYRK1A and RCAN1, in dysregulation of a specific cellular signaling pathway and concomitant Down syndrome phenotypes, including learning and memory impairments. “This grant helps support great science that may become great therapy,” says Dr. Mobley, adding that it “is an immense pleasure to work with such talented scientists.”
Key elements of DSRTF's paradigm-shifting research strategy designed to accelerate the development of effective, new cognitive impairment therapies include identifying and pairing the most promising research programs together with effective levels of funding to achieve meaningful results.  This approach has yielded dividends at the Down Syndrome Center established at Stanford University. “The unprecedented results so rapidly achieved by the Stanford researchers with the equally unprecedented level of funding provided by DSRTF since 2004 demonstrates a strong proof-of-principle for DSRTF’s strategy,” says Michael Harpold, PhD, Chief Executive Officer of DSRTF. “The DSRTF-supported research at Stanford has led to the first definition of specific mechanisms involved in cognitive impairment in Down syndrome and identification of multiple potential drug targets for development of new therapies. Continued funding through this significant new grant not only allows this research to advance to the next phase of evaluating potential drugs, but also enhances the momentum for discovering additional new drug targets.”  Regarding the DSRTF Research Center Grants to Stanford, Dr. Mobley adds that DSRTF has “been the most effective funding source focused specifically on Down syndrome research. They have been very helpful to us and we very much appreciate their support.”

“Not only do the successful results and direction of the DSRTF-supported research at Stanford bring us closer to the goal of new therapies for improving cognitive function in individuals with Down syndrome, but they dramatically underscore the potential for very broad impact of advances in Down syndrome research in the much wider population such as a unique pathway to new Alzheimer’s disease drugs,” says Dr. Harpold. “DSRTF recognizes these significant new and continuing research initiatives and advances, such as those currently funded at Stanford and Johns Hopkins, 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. Building on this momentum will require continuing and expanding contributions to DSRTF to further accelerate attainment of our goal for effective therapies and creating new opportunities, including the potential for greater independence and achievement, for all individuals with Down syndrome.”