Funded projects 2022

Number of projects: 21

Total amount funded: 1.116.997 €

New insight into molecular pathogenic mechanisms of PAK3 mutations analysed using a large mutation cohort and a new mouse model
Jean-Vianney Barnier
Institut des neurosciences Paris-Saclay, UMR9197. Saclay, France

Alterations of the DPP4/ DYRK1A/ GSK-3β axis are associated with intellectual disability and Alzheimer’s disease development in Down syndrome: search for novel therapeutic strategies.
Eugenio Barone
Sapienza University of Rome. Rome, Italy

Investigating Down syndrome related diabetes with a human trisomy 21 iPSC disease model
Barak Blum
University of Wisconsin – Madison. Madison (WI), USA

TOTORO: Transcranial Direct current stimulatiOn (tDCS) as a Treatment for depressiOn with catatonic features in patients with Down’s syndROme: a pilot randomised control study
Jerome Brunelin
Centre de Recherche en Neurosciences de Lyon, Inserm U1028, CNRS UMR5292, Centre Hospitalier Le Vinatier. Bron, France

Impaired response to cellular stress and astrocytic senescence in Fragile X syndrome: an explorative in vitro and ex vivo study.
Maria Vincenza Catania
Institute for Biomedical Research and Innovation – National Research Council (IRIB-CNR). Catania, Italy

Role of neuropeptides on Blood Brain Barrier formation and maintenance in a 22q11.2DS mouse model
Bice Chini
Istituto di Neuroscienze. Consiglio Nazionale delle Ricerche. Rome, Italy

Lactococcus Lactis as promising live vector for the Safe delivery of secretable Tatk-Cdkl5 protein in treatment of Cdkl5 deficiency disorder
Elisabetta Ciani
University of Bologna. Bologna, Italy

 DS Biome – Investigating Down Syndrome Gut Microbiome
Paul Cotter
Teagasc Food Research Centre. Fermoy, Ireland

Understanding the physiopathological mechanisms underlying the cerebral malformations and intellectual deficiency associated to RNU4ATAC-related syndromes
Marion Delous
Centre de Recherche en Neurosciences de Lyon, Inserm U1028, CNRS UMR5292, Université Claude Bernard Lyon1. Bron, France

Persulfidome variations as a result of hydrogen sulfide dysregulation in DS: biological pathways alteration and therapeutic consequences.
Erwan Galardon
CNRS. Institut National de Chimie (INC). Villejuif, France

Abnormal astrocyte morphology and cytoskeleton in the brain impairment of myotonic dystrophy
Mario Gomes-Pereira
Centre de Recherche en Myologie – Inserm UMRS 974. Paris, France

Exploration of the nuclear roles of the Fragile-X Messenger RibonucleoProtein (FMRP) and their cross talk with its synaptic functions in mammalian neurons using multiple OMICs approaches.
Carole Gwizdek
Institut de Pharmacologie Moléculaire et Cellulaire. Valbonne, France

Thermoception in murine neonates, a potential early life phenotypic marker of autism spectrum disorders
Valery Matarazzo
INMED, INSERM UMR1249, Campus scientifique de Luminy, Aix-Marseille Universite. Marseille, France

Analysis of the proteome and behavioural responses to the HDACi Vorinostat in Arx mouse model of developmental epileptic encephalopathy
Maria Giuseppina Miano
Institute of Genetics and Biophysics Adriano Buzzati-Traverso – National Research Council (CNR). Naples, Italy

DGKk loss of function as a novel cause of intellectual disability
Hervé Moine
Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC). Illkirch, France

Elucidating the gene dosage effects of DYRK1A on Alzheimer’s disease pathology in mice: identification of biomarkers and pharmacological targets
Marie-Claude Potier
Institut du Cerveau ICM. Paris, France

Understanding the Cellular Mechanisms of the 1q21.1 Neurodevelopmental Disorder
Murielle Saade
Institut de Biologia Molecular de Barcelona- CSIC. Barcelona, Spain

Assessment and predictors of Alzheimer’s disease in Down syndrome across language groups and countries
Andre Strydom
King’s College London. London, United Kingdom

Characterization of a novel Drosophila mutant overexpressing Mnb/Dyrk1A: a model system to study Down syndrome – Trisomy 21 neurobiological alterations and a possible platform for drug discovery.
Francisco J. Tejedor
Instituto de Neurociencias. CSIC & UMH. Alicante, Spain

Exploring the role of circadian rhythms in CDKL5 deficiency disorder to discover novel therapeutic strategies
Paola Tognini
University of Pisa. Pisa, Italy

Pre-clinical imaging biomarkers of neurodevelopmental dysfunction in a mouse model of KCNQ2-developmental and epileptic encephalopathy
Sarah Weckhuysen
VIB-Center for Molecular Neurology, University of Antwerp. Antwerp, Belgium