Funded projects 2019

Number of projects: 32

Total amount funded: 1.413.138 €

19th International Workshop on Fragile X and Related Neurodevelopmental Disorders
Maria Giuseppina Miano, PhD
CNR, Institute of Genetics and Biophysics. Naples, Italy

Creatine Transporter Deficiency: Insights into New Therapeutic Strategies
Laura Baroncelli, PhD
Institute of Neuroscience. Pisa, Italy

Preclinical evaluation of pioglitazone treatment in the Fmr1-KO mouse model of Fragile X syndrome
Hervé Moine, PhD
Institut de Génétique et de Biologie Moléculaire et Cellulaire. Illkirch, France 

Function of the brain disorder-associated KIAA1109 gene
Alexandre Reymond, PhD
University of Lausanne. Lausanne, Switzerland

Mechanisms underlying cognitive deficits in a mouse model for the Coffin-Lowry syndrome: Focus on neuronal development during the postnatal period
Roseline Poirier, PhD
Institut des Neurosciences Paris-Saclay (Neuro-Psi). Orsay, France

Restoring cellular function in Smith-Magenis syndrome
Sarah Elsea, PhD
Baylor College of Medicine. Houston, United States

Modulation of brain cholesterol metabolism through CYP46A1 overexpression for Rett syndrome
Françoise Piguet, PhD
Institut du Cerveau et de la Moelle épinière. Paris, France

MADT21-Modulation of the Alzheimer’s disease phenotype in 2nd generation of down syndrome models
Jean-Christophe Cassel, Prof.
Université de Strasbourg. Strasbourg, France

RCAN1-driven pulmonary endothelial cell dysfunction leads to pulmonary hypoplasia and pulmonary hypertension in Down syndrome
Csaba Galambos, MD. PhD
University of Colorado School of Medicine. Aurora, United States

Contribution of Axonal Transport Deficits to Brain Impairment and Intellectual Disability in Myotonic Dystrophy
Mario Gomes-Pereira, PhD
Institut de Myologie. Paris, France

Molecular and cellular bases of polymicrogyria in a mouse model of mental retardation disease
Michèle Studer, PhD
Institut de Biologie Valrose. Nice, France

Broadening the scope and recruitment of GENIDA, a participatory study for genetics forms of ID to define their comorbidities and natural histories
Jean-Louis Mandel, PhD
Institut de Génétique et de Biologie Moléculaire et Cellulaire. Illkirch, France

Functional analysis for understanding and treating SCN2A-mediated disorders
Massimo Mantegazza, PhD
Institut de Pharmacologie Moléculaire et Cellulaire. Valbonne, France

Cancers et trisomie 21: organes à risque
Daniel Satge, MD. PhD
Institut Universitaire de recherche Clinique. Montpellier, France

A cluster-randomized cross-over repeated measures pilot study of the effect of Nordic Walking on cardiovascular fitness in young persons with Down syndrome
Carlos Ayan, Prof.
Universidad de Vigo. Pontevedra, Spain

Modulation of gut microbiota as a therapeutic approach to improve cognitive phenotypes of Ts65Dn mice and decelerate the onset of neurodegenerative processes
Nieves Pizarro, PhD
Fundació Institut Mar d’Investigacions Mèdiques. Barcelona, Spain

 Aberrant insulin signaling contributes to development of Alzheimer disease in Down syndrome: search for novel therapeutic strategies
Eugenio Barone, PhD
Sapienza University of Rome. Rome, Italy 

Jacques Monod Conference: Genetics, environment, signalling & synaptic plasticity in developmental brain disorders: from bench to bedside
Barbara Bardoni, PhD
Institute of Molecular and Cellular Pharmacology. Valbonne, France     

Comparative study of oral treatments inhibiting cannabinoid CB1 receptor on cognitive and neurodegenerative phenotypes of Ts65Dn mouse model of Down syndrome.
Andres Ozaita, PhD
Universitat Pompeu Fabra. Barcelona, Spain

 The Medial Diencephalon in Down syndrome
Seralynne Vann, Prof.
Cardiff University. Cardiff, United Kingdom

Can measures of prenatal and neonatal brain structure predict infant and child cognition in Down syndrome? – Establishing neurocognitive profiles
Michael Thomas, PhD
Birkbeck, University of London, London, United Kingdom

Myeloid leukemia in Down syndrome: exploring the interplay between transcriptional regulation and immune signalling
Sergi Cuartero, PhD
Josep Carreras Leukaemia Research Institute. Badalona, Spain

Organization of the DYRK1A interactome through docking domains: searching for novel targeting approaches
Susana de la Luna, PhD
Centre for Genomic Regulation. Barcelona, Spain

Why are children with Down syndrome at increased risk of autoimmune conditions including type 1 diabetes?
Kathleen Gillespie, PhD
University of Bristol. Bristol, United Kingdom

Modeling of basal forebrain cholinergic vulnerability in Down syndrome
Anita Bhattacharyya, PhD
University of Wisconsin, Waisman Center. Madison, United States

Interneuron-type specific alterations of inhibition in DS
Jan Michael Schulz, PhD
University of Basel. Basel, Switzerland

Inflammatory biomarkers along the Alzheimer’s disease continuum in Down syndrome
Maria Carmona-Iragui, MD. PhD
Hospital de la Santa Creu i Sant Pau- Fundació Catalana Síndrome de Down. Barcelona, Spain

Vocalizations and social interactions in Down syndrome model mice
Sylvie Granon, PhD
Institut des Neurosciences Paris-Saclay/NeuroPsi. Orsay, France

Human induced pluripotent stem cells from Down Syndrome: modelling synaptic dysfunction and exploring therapeutic approach
Federico Zara, MD
IRCCS Institute Giannina Gaslini.  Genova, Italy

Molecular analysis of the non-cell autonomous effects in Down syndrome cortex using mouse ESC-derived brain organoids
Laura Batlle Morera, PhD
Center for Genomic Regulation. Barcelona, Spain

Are GABAα5 inverse agonists still promising for improving cognitive impairments in Down syndrome?
Marie-Claude Potier, PharmaD, PhD
Institut du Cerveau et de la Moelle Epiniere. Paris, France

Adhesion mechanisms contributing to the Down syndrome phenotype
Kristy Welshhans, PhD
University of South Carolina. Columbia, United States