Funded projects 2023

Number of projects: 15

Total amount funded: 811.046 €

Phytocannabinoids in Fragile X syndrome: shedding light on therapeutic potential and mechanisms
Viviana Trezza
Roma Tre University, Department of Science, Pharmacology, Italy

Characterization of the therapeutic potential of a new family of CBS inhibitors
Gaëlle Friocourt-Massé
INSERM UMR 1078, Génétique, Génomique fonctionnelle et Biotechnologies, Brest, France

Investigation into alterations in the gut microbiome in a novel mouse model of ASD
Heike Rebholz
INSERM U1266, Institut de Psychiatrie et Neuroscience de Paris, France

Prader-Willi Syndrome: the role of primate-specific NPAP1 in sleep and circadian rhythms
Valter Tucci
Italian Institute of Technology, Genova, Italy

RAB39B gene therapy and AMPAR modulation in a pre-clinical mouse model for Intellectual Disability
Patrizia D’Adamo
Ospedale San Raffaele, Division of Neuroscience, Molecular Genetics of ID, Milano, Italy

Characterization of a mouse model of trio-associated intellectual disability
Anne Debant
Centre de recherche en biologie cellulaire de Montpellier, CRBM-CNRS, France

Rescue dysregulated protein syntheis as a new therapeutic strategy for Phelan McDermid syndrome
Chiara Verpelli
CNR Neuroscience Institute, Physiological and pathological mechanisms of synaptic development, Pisa, Italy

Functional analysis of overexpression followed by restoration to normal levels of individual DS-‎related genes
Alon Zaslaver
Hebrew University, Genetics, Jerusalem, Israel

Towards developing novel targeted therapies for Down syndrome leukemia
Sébastien Malinge
Telethon Kids Institute, Telethon Kids Cancer Centre, University of Western Australia, Nedlands, Australia

A therapeutic approach during the postnatal period to rescue cognitive functions in a mouse model of the Coffin-Lowry syndrome
Roseline Poirier
Institut des Neurosciences Paris-Saclay, CNRS UMR 9197, France

Long-term follow-up study of children with Prader-Willi syndrome treated with 1/2 months of intranasal oxytocin as infants and comparison with an untreate cohort of children with PWS up to 4 years of age
Maïthé Tauber
CHU Toulouse, Centre de référence PRADORT, Toulouse, France

Immune dysregulation in children with Down Syndrome and therapeutic role of Janus Kinase inhibition
Olaf Neth
Inborn Error of Immunity Laboratory, Instituto de Biomedicina de Sevilla, Spain

20thInternational Workshop on Fragile X and other Neurodevelopmental Disorders
Pietro Chiurazzi
Università Cattolica del Sacro Cuore Sezione di Medicina Genomica, Roma, Italy

Shaping microglia function upon immune stimulation in a genetic model for Autism Spectrum Disorders
Antonietta Gentile
University of Rome Tor Vergata, Department of Biomedicine & Prevention Molecular Neurobiology, Italy

multiSINEUPs as a non-coding RNA platform for precision medicine of Microdeletion Syndromes and CNVs: the case of 22q11.2DS
Stefano Gustincich
Instituto Italiano di Tecnologia LIFETECH, Genova, Italy

Last updated 26/07/2023