The Down Syndrome Research and Treatment Foundation Announces Grant Awards to Advance Cognition Research and Potential New Therapies in Down Syndrome

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Research to Accelerate Treatments to Improve Cognition for Individuals with Down syndrome

The Down Syndrome Research and Treatment Foundation (DSRTF), announced today that it will fund leading researchers from major research centers around the country to help accelerate the delivery of treatments to improve cognition, including learning, memory and speech for individuals with Down syndrome.

Researchers at Johns Hopkins University School of Medicine, University of California, San Diego School of Medicine, the University of Arizona, Stanford University School of Medicine, the University of Texas, Austin, and VA Palo Alto Health Care System are the recipients of this latest award of DSRTF Research Grant funding. With the funding of the 2011-2012 research grants, DSRTF has now provided over $8 million to advance Down syndrome cognition research.

"The new grants to support these exceptional investigators and their research will continue to accelerate the remarkable progress in the advancement of new therapies to improve cognitive abilities in those with Down syndrome,” said Dr. Michael Harpold, DSRTF's Chief Scientific Officer and Chair, Scientific Advisory Board. “DSRTF recognizes these new research grants and initiatives as well as these advances would not be possible without the generous financial support of the Foundation's donors, and DSRTF is grateful to all for their support.”

DSRTF focuses exclusively on identifying and funding critical biomedical cognition research for individuals with Down syndrome. The Foundation’s mission is to accelerate the development of treatments that will allow individuals with Down syndrome to:

  •     participate more successfully in school and work;
  •     lead more active and independent lives; and
  •     prevent additional cognitive decline associated with Alzheimer's disease.

These 2011-2012 grants build significantly upon the DSRTF-supported research that has led to dramatic breakthroughs in defining specific mechanisms responsible for cognitive impairment in Down syndrome together as well as identifying new drug targets and developing safe and effective new drugs for improving cognitive function.

According to Chris Rose, DSRTF’s Executive Director, “The grants we are announcing today demonstrate DSRTF’s ongoing commitment to discovery and translational research with the objective of accelerating new therapies that will improve cognition, for children and adults with Down syndrome.”

Last month, the pharmaceutical company Roche announced early stage clinical trials to test for the tolerability and safety of a drug molecule for improved cognition, to be held at nine trial sites around the country.    

The research grants announced today include:

DSRTF Research Center Grant entitled “A Down Syndrome Virtual Center for Basic and Translational Studies-Cognition and Therapy in Down Syndrome” to Principal Investigators Dr. Roger Reeves, Professor, Department of Physiology and McKusick Nathans Institute for Genetic Medicine, and Dr. Stephanie Sherman, Professor, Department of Human Genetics Emory University School of Medicine.

Co-Principal Investigators include Len Abbeduto, Ph.D. (MIND Institute, University of California, Davis); George Capone, M.D., Iser DeLeon, Ph.D. and Connie Smith-Hicks, M.D., Ph.D., (Kennedy Krieger Institute, Baltimore); Paul Worley, M.D. and Valerie DeLeon, Ph.D. (Johns Hopkins University School of Medicine); Lynn Nadel, Ph.D. and Jamie Edgin, Ph.D. (University of Arizona); Eleanor Feingold, Ph.D. (University of Pittsburgh); Cheryl Maslen, Ph.D. (Oregon Health and Science University); and, Emily Kuschner, Ph.D. (Children’s National Medical Center, Washington DC)

> Investigation of the mechanism by which a single-dose treatment, early in life of Down syndrome mouse model, with a specific SHH growth factor-like drug completely restores hippocampal function involving learning and memory in adults which may lead to significant new therapeutic strategies.

> Investigation of hippocampal neural circuit/network dysfunction and abnormalities in synaptic function which may lead to important insights to refine GABA-A receptor-mediated therapeutic approaches and identify new potential therapeutic drug targets.

> Further expansion and development of Down Syndrome Cognition Project and collaborative network to encompass eight biomedical research institutions for clinical studies to correlate genetic and cognitive variability in individuals with Down syndrome, incorporate and validate language assessment tools, extend validation and acceptance of the ACTB as specific new biomedical standard and critical efficacy assessment component in clinical trials, and to further establish scaffold for clinical trials network.

DSRTF Research Center Grant entitled “Deciphering the Genetic and Mechanistic Bases for Cognitive Deficits in People with Down Syndrome: Pursuing High Priority Projects to Accelerate Development of Effective Treatments” to Principal Investigator Dr. William Mobley, Professor and Chair, Department of Neurosciences.

Co-Principal Investigators include Pavel Belichenko, M.D., Ph.D., Alexander Kleschevnikov, Ph.D., Steve Wagner, Ph.D. and Chengbiao Wu, Ph.D.

> Further investigation of the roles of GABA-A and GABA-B receptors and Girk2 potassium channel in the imbalance in excitatory and inhibitory neurotransmission and cognitive dysfunction in mouse DS models which may lead to the identification of new drug targets, potential drugs, and therapeutic strategies to improve cognition.

> Continuing investigation on mechanism(s) by which excess APP, and/or its products, may be involved in degeneration of specific neural circuits with age which may lead to the identification of new drug targets, potential drugs, and therapeutic strategies to decrease APP and/or its products, and ameliorate age-related cognitive dysfunction and Alzheimer’s disease pathology associated with Down syndrome.

DSRTF Innovation Research Grant entitled “The Neuropsychology of Down Syndrome” to Principal Investigators Drs. Lynn Nadel, Regent’s Professor and Jamie Edgin, Senior Research Associate, Department of Psychology.

> Extension and expansion of Arizona Cognitive Test Battery (ACTB) to include development and evaluation of specific language and communication assessment tests and for testing in a wider range of ages and ability. This will include expansion of ACTB application to toddlers and children under age 10 as well as adults, for detection of changes associated with decline from dementia, to support clinical trials in these groups, and further advance validation and acceptance of the ACTB as specific new biomedical standard in Down syndrome research and clinical trials.

> Application of ACTB to sleep studies as well as analysis of genetic variations in children with Down syndrome to provide new insights for evidence-based therapeutic strategies for addressing sleep disorders and also improve cognitive function.

> Investigation and development of specific biomarker assessments of cognitive function and associated changes to provide critical additional functional and efficacy tests for Down syndrome cognitive research and clinical trials.

DSRTF Innovation Research Grant entitled “Reducing Cognitive Disability in Down Syndrome-Exploration of the Mechanisms of Hippocampal Dysfunction and Pharmacotherapy” to Principal Investigator Dr. H. Craig Heller, Lokey/Business Professor Department of Biology, and co-Principal Investigator Dr. Craig Garner, Professor Department of Psychiatry and Behavioral Sciences, and co-Directors Stanford Down Syndrome Research Center.

> Continuing investigation of the mechanism(s) of action of drugs that block GABA-A receptor function in mouse DS models which may provide additional insights on and modifications for potential therapeutic strategies to improve memory and sleep in Down syndrome.

> Development and application of optogenetic technologies in mouse model for Down syndrome to investigate abnormal sleep mechanisms and specific correlations to learning and memory dysfunction

> Investigation of the role of App dosage in abnormal sleep mechanisms in mouse models and specific correlations to learning and memory dysfunctions in Down syndrome to identify potential therapeutic strategies for improvement.

DSRTF Innovation Research Pilot Grant entitled “Molecular analysis of proneurogenic, neuroprotective drugs on prevention of APP-induced neurodegeneration in a model of Down syndrome” to Principal Investigator Dr. Jon Pierce-Shimomura, Assistant Professor, Section of Neurobiology.

> Investigation of drugs that prevent APP-induced neurodegeneration in C. elegans to identify specific molecular targets and mechanisms of action which may lead to new therapeutic strategies to ameliorate age-related neurodegeneration in Down syndrome.

> Continuing identification of over-expressed human chromosome 21-equivalent genes involved in neural dysfunction, including neurodegeneration, using automated behavioral analysis with different sets of transgenic C. elegans as new animal models for Down syndrome research.

DSRTF Innovation Research Pilot Grant entitled “Improving Beta-adrenergic Signaling in the Treatment of Cognitive Dysfunction, an in vivo Study in the Ts65Dn Mouse Model of Down Syndrome” to Principal Investigator Dr. Ahmad Salehi, Research Health Science Specialist and Clinical Associate Professor, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine.

> Continuing evaluation of FDA-approved norepinephrine re-uptake inhibitor, Atomoxetine, to improve learning and memory in a mouse model for Down syndrome which may provide a basis for accelerated clinical evaluation of Atomoxetine in individuals with Down syndrome.

> Continuing investigation into roles of hippocampal beta-adrenergic receptor subtypes in restoring cognitive function and preventing age-related neurodegeneration in mouse model for Down syndrome.

About the Down Syndrome Research and Treatment Foundation:
The Down Syndrome Research and Treatment Foundation (DSRTF) is a national non-profit organization headquartered in Palo Alto, California, aimed at accelerating the development of treatments to significantly improve cognition, including memory, learning and speech, for individuals with Down syndrome. DSRTF funds research at major research centers, including Johns Hopkins Medical Center, Stanford University, University of California, San Diego, and University of Arizona. Since its founding in 2004, DSRTF has committed more than $8 million to fund results-driven research programs that will benefit children and adults with Down syndrome.


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