Workshop on Cognition in Down Syndrome Agenda and Speakers

Molecular, Cellular and Behavioral Features and the Promise of Pharmacotherapies
April 13-15, 2013
Washington, D.C.

Welcome
Tom Blumenthal, Ph.D.
Executive Director
Linda Crnic Institute for Down Syndrome		 Katheleen Gardiner, Ph.D.
University of Colorado School of Medicine
Linda Crnic Institute for Down Syndrome

 

SESSION 1: The genes of HSA21, pathways and processes they influence

Chair: John O’Bryan, Ph.D.
University of Illinois at Chicago
Michael Jackson, Ph.D.
University of Western Ontario		 TRPM2 regulates NMDAR-dependent plasticity through GSK3β in the hippocampus
Patricia Whitaker-Azmitia, Ph.D.
Stony Brook University		 Role of S100b overexpression in Down syndrome: Translational and human studies
Ralph Nixon, M.D., Ph.D.
NYU Langone Medical Center		 Factors driving Alzheimer’s disease-related dysfunction in Down syndrome
John O’Bryan, Ph.D.
University of Illinois at Chicago		 Intersectin 1 (ITSN1): insights into signaling, transformation, and Down syndrome
Mara Dierssen, M.D., Ph.D.
Centre for Genomic Regulation		 Narrowing “Down” the genes: Dyrk1A as a multi-level regulator of adult plasticity
Michael Bustin, Ph.D.
National Cancer Institute		 Biological function and mechanism of action of the nucleosome binding protein HMGN1
Natasa Kopitar-Jerala
Jozef Stefan Institute		 The lack of cysteine proteinase inhibitor stefin B influence inflammasome activation and cytokine secretion
Karl Pfenninger, M.D.
University of Colorado Denver – Anschutz Medical Campus		 Role of amyloid precursor protein (APP) in brain development and implications for Down syndrome

Poster Symposium

Chair: Frances Wiseman, Ph.D.
University College of London
Damien Maréchal
Institut de Génétique et de Biologie Moléculaire et Cellulaire		 The cystathionine beta-synthase is necessary and sufficient to induce learning and memory deficits in mouse models of Down syndrome
Fabian Corlier
Hôpital de la Pitié-Salpêtrière		 The endosomal phenotype in Down syndrome. Which genes are involved? Does it get worse with Alzheimer’s disease?
Nicole Créau-Goldberg
Hôpital Necker-Enfants Malades		 Functional cerebellar phenotypes in the adult TgPCP4, a model of Down syndrome
Jacqueline London
Université Paris Diderot		 APP and Dyrk1A overexpression modify adrenaline, dopamine and serotonin contents in various brain areas of transgenic mice for these two genes
Nicole Schupf, Ph.D.
Columbia University		 Multiple genes on chromosome 21 are associated with individual differences in plasma levels of beta amyloid peptides in adults with Down syndrome

SESSION 2: Lessons from other causes of ID

Chair: Jorge Busciglio, Ph.D.
University of California, Irvine
Eric Klann, Ph.D.
New York University		 Dysregulated translational control in neurodevelopmental disorders
Jonathan Kipnis, Ph.D.
University of Virginia		 Immune-based cognitive enhancement – from animals to cells to molecules
Marc Dumas, Ph.D.
Imperial College London		 Metabolic phenotyping and systems biology approaches to understand neurological disorders
Pinar Coskun, M.D.
University of California, Irvine		 Metabolic defect in Down syndrome lymphoblastoid cells
Pablo Helguera
University of California, Irvine		 Reduced mitochondrial activity is associated to altered mitochondrial dynamics in Down syndrome cells

SESSION 3: Mechanisms of ID in DS – model systems

Chair: Roger Reeves, Ph.D.
Johns Hopkins University School of Medicine
Jon Pierce-Shimomura, Ph.D.
The University of Texas at Austin		 Study of Down syndrome-related genes using the genetic model C. elegans
Yann Herault, Ph.D.
Institut de Génétique et de Biologie Moléculaire et Cellulaire		 TBD
Joseph Goodliffe
Boston University School of Medicine		 Neurogenesis abnormalities in the Ts1Yey mouse model of Down syndrome
Maria Usowicz, Ph.D.
University of Bristol		 Tonically active GABA-A receptors and electrical properties of cerebellar granule cells in the Ts65Dn mouse model of Down Syndrome
Li Li, Ph.D.
University of Washington, Seattle		 Trisomy correction in Down syndrome induced pluripotent stem cells
Anita Bhattacharrya, Ph.D.
University of Wisconsin-Madison		 Cellular and molecular deficits in Down syndrome induced pluripotent stem cells (iPSC) and neurons
Jeanne Lawrence, Ph.D.
UMass Medical School		 A novel approach to Down syndrome: Can the X-chromosome dosage compensation mechanism be translated to Trisomy 21?

Poster Symposium

Chair: Nicole Créau-Goldberg
Hôpital Necker-Enfants Malades
Frances Wiseman, Ph.D.
University College of London		 Trisomy of chromosome 21 modifies APP/Aβ pathology in a mouse model
Mahiuddin Ahmed, Ph.D.
University of Colorado Denver – Anschutz Medical Campus		 Protein profiles in the Dp(10)1Yey and Dp(17)1Yey mice predict novel pathway perturbations in the Down syndrome brain and sex-specific abnormalities in protein levels
Damien Colas, Ph.D.
Stanford University School of Medicine		 Sleep and EEG studies in mouse models of Down’s syndrome,implications for cognition
Sarah McGuire
Johns Hopkins University School of Medicine		 Pair wise combinatorial injections of Hsa21 genes show a synthetic dosage effect on Shh-related phenotypes in zebrafish
Dean Nizetic, M.D., Ph.D.
Queen Mary, University of London		 An intact genome, isogenic hiPSC model from an individual with mosaic Down syndrome reveals neurogenesis and mitochondrial defects caused by Trisomy 21

SESSION 4: Pharmacology in model systems

Chair: Carmen Martinez-Cue
Universidad de Cantabria
Chih-Ming Ho, Ph.D.
University of California, Los Angeles		 Rapid optimization of combinatorial drugs by FSC.X techniques
Katheleen Gardiner, Ph.D.
University of Colorado Denver
Linda Crnic Institute for Down Syndrome
 Protein profiling of drug responses
Jean Delabar
Université Paris Diderot		 E/I balance and learning are modified by Dyrk1a gene dose and EGCG treatment
Carmen Martinez-Cue
Universidad de Cantabria		 Selective GABA-A alpha 5 negative allosteric modulation rescues functional and neuromorphological deficits in a mouse model of Down syndrome
Renata Bartesaghi
Università di Bologna		 Prenatal pharmacotherapy with fluoxetine rescues neurodevelopmental abnormalities in the Ts65Dn mouse model of Down syndrome

SESSION 5: The DS cognitive and neurological phenotype

Chair: Len Abbeduto, Ph.D.
UC Davis MIND Institute
George Capone, M.D.
Kennedy Krieger Institute
Johns Hopkins University School of Medicine		 Co-morbidities in children with DS and their relevance for cognitive trials
Len Abbeduto, Ph.D.
UC Davis MIND Institute		 Language development in Down syndrome: Implications for clinical trials
Naznin Virji-Babul, Ph.D.
University of British Columbia		 Perception-action coupling in Down syndrome: Insights from neuroimaging and behavior
Chitra Lal, M.D.
Medical University of South Carolina		 Cognitive impairment in Obstructive Sleep Apnea Syndrome: relation to Down syndrome
Ira Lott, M.D.
University of California, Irvine		 Cognitive changes across the lifespan
Roger Reeves, Ph.D.
Johns Hopkins University School of Medicine		 DS360: Establishing a comprehensive genotype ←→ phenotype study of Down syndrome
Nancy Raitano Lee, Ph.D.
National Institute of Mental Health		 Age effects on executive function in a multi-site sample of youth with Down syndrome

SESSION 6: PANEL DISCUSSIONS

Panel Discussion I: Clinical trials for cognition in DS
Chair: George Capone, M.D.
Kennedy Krieger Institute
Johns Hopkins University School of Medicine
Michael Aman, Ph.D.
The Ohio State University		 Pharmacological trials in Down syndrome: Lessons learned from trials in other disabilities
Panelists: Michael Aman, Ph.D.; Omar Khwaja, M.D., Ph.D. (Roche); Michael Harpold, Ph.D. (Down Syndrome Research and Treatment Foundation); Henri Bléhaut, M.D. (The Jérôme Lejeune Foundation)
Panel Discussion II: Re-aligning the targets for clinical trials
Chair: Michael Aman, Ph.D.
The Ohio State University
Panelists: George Capone, M.D. (Kennedy Krieger Institute / Johns Hopkins University School of Medicine); Len Abbeduto, Ph.D. (UC Davis MIND Institute); Chitra Lal, M.D. (Medical University of South Carolina); Ira Lott, M.D. (University of California, Irvine)