Number of projects: 26

Total amount funded: 1 458 046 €

5th T21RS International conference: Promoting research excellence in Down syndrome
Marzia Perluigi
T21 Research Society, Wageningen, the Netherlands

Brain-directed treatment to improve language in children and adolescents with Down syndrome: the efficacy of transcranial direct current stilmulation treatment coupled with linguistic training
Floriana Costanzo
Bambino Gesù Children’s Hospital, Neuropsychiatric Psychology Laboratory, Rome, Italy

Brain circuits and neurotransmetter malfunction in Down syndrome: a pilot study to explore the therapeutic potential of transcranial direct current stimulation (tDCS)
Marco Cambiaghi
University of Verona, Experimental Neurophysiology laboratory, Verona, Italy

Deciphering the molecular mechanisms altered by CBS overdosage in T21 astrocytes: insights from rodent and IPS cell models
Yann Hérault
Institut de genétique et de biologie moléculaire et cellulaire (IGBMC), Illkirch, France

Study of sleep-wake cycle and cardiac and respiratory impairments in Ts65Dn and Dp1Yey mice along early postnatal development
Eduardo Dominguez del Toro
Universidad Pablo de Oblavide, Division Nerurociencias, Sevilla, Spain

International Brain Bank for Down syndrome-related Alzheimer’s disease
Ann-Charlotte Granholm
University of Colorado, Laboratory of Neurodegeneration, Aurora, United States of America

Novel biomarkers for lysosomal dysfunction in Down syndrome – Alzheimer’s disease
Laia Montaliu-Gaya
University of Gothenburg, Sweden

Nutrient-dependent alteration in the Unfolded Protein Response in Down syndrome brain: tackling the diet/cognition axis
Fabio Di Dominico
Sapienza University of Rome, Laboratory of Biochemistry, Rome, Italy

Understanding the metabolic defects in the developing cerebellum in Down syndrome
Paula Alexandre
University College London GOS Institute of Child Health, Stem Cell Renewal and Neurogenesis Laboratory, London, United Kingdom

Oocyte aneuploidy leading to Down syndrome – driven by aging-related epigenetic changes- how can we stop it?
Michael Klutstein
Hebrew University of Jerusalem, Chromatin and Aging Research Laboratory, Jerusalem, Israel

Prospective study of the immunotherapy responsiveness and immune signature of Down syndrome Regressive Disorders (DSRD)
Pierre Ellul
Hôpital Pitié-Salpêtrière, INSERM U959 – Laboratory of Immunology, Immunopathology, Immunotherapy, Paris, France

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 13/12/2023