Funded projects 2020

Number of projects: 28

Total amount funded: 1.391.692 €

Neurotrophic factor therapy for Smith-Magenis Syndrome
Wei-hsiang Huang, PhD
McGill University. Montreal, Canada

Role of WNT signalling in the pathophysiology of Angelman syndrome
Ype Elgersma, Prof.
Erasmus MC University Medical Center. Rotterdam, the Netherlands

Insulin-like growth factor 1 as treatment for Rett Syndrome and other neurodevelopmental disorders
Daniela Tropea, PhD
Trinity Center for Health Sciences. Dublin, Ireland

Modulation of GABAA receptor to rescue intellectual disability in the Phelan-McDermid Syndrome
Chiara Verpelli, PhD
CNR Institute of Neuroscience. Milan, Italy

ProNGF and NfL in neuron-derived extracellular vesicles: the gateway to blood biomarker discovery for Alzheimer’s disease prevention in Down syndrome
Florencia Iulita, PhD
Hospital de la Santa Creu i Sant Pau. Barcelona, Spain

A novel Wnt pathway modulator for treatment of Fragile X syndrome
Enzo Lalli, MD
Institut de Pharmacologie Moléculaire et Cellulaire. Valbonne, France

The role of PCDH19 in the control of epigenetic factors
Maria Passafaro, PhD
Institute of Neuroscience CNR. Milan, Italy

Neural precursor cell (NPC) therapy: a novel therapeutic approach for the treatment of Rett syndrome
Angelisa Frasca, PhD
Università degli Studi di Milano Statale. Segrate, Italy

Molecular alterations and behavioral consequences of disease-causing missense mutations in the GRID1 gene identified in patients with intellectual disability
Régine Hepp, PhD
Sorbonne Université, Institut de Biologie Paris Seine. Paris, France

Role of the cerebellum on autism spectrum disorders and intellectual disability associated with the Phelan-McDermid Syndrome
Christelle Rochefort, PhD
Sorbonne Université, Université Pierre et Marie Curie. Paris, France

A systems pharmacology approach for innovative therapies in Rett syndrome
Enrico Tongiorgi, PhD  
University of Trieste. Trieste, Italy

Understanding the role of NR2F1 on mitochondrial functions to gain new insight into the Bosch-Boonstra-Schaaf optic atrophy-intellectual syndrome
Silvia De Marchis, PhD
University of Turin. Turin, Italy

Contribution of astrocytes to synaptopathy in the oligophrenin-1 mouse model of X-linked intellectual disability
Nathalie Rouach, PhD
Collège de France. Paris, France             

Neurobiological studies of Cohen Syndrome disease gene VPS13B in autosomal recessive intellectual disability
Binnaz Yalcin, PhD
University of Burgundy. Dijon, France   

Sleep as a predictor of memory performance and brain development in Down syndrome
Annalysa Lovos
University of Arizona. Tucson, Unites States

Effect of adolescent treatment with the flavonoid 7,8-DHF on brain wiring, synaptic plasticity and cognitive performance in a model of Down syndrome
Fiorenza Stagni, PhD
University of Bologna. Rimini, Italy

Impact of Dyrk1a gene dosage on striatal development and function
Véronique Brault, PhD
Institut de Génétique et de Biologie Moléculaire et Cellulaire. Illkirch, France

Quantitative Proteomics of Intracellular Traffic in Down Syndrome Brain
Hossein S. Fatemi, MD, PhD
University of Minnesota. Minneapolis, United States

Calcineurin Signaling in Neutrophils May Underlie the High Incidence of Infection-Related Mortality for Children with Down Syndrome Being Treated for Leukemia
Sandra Ryeom, PhD
University of Pennsylvania School of Medicine. Philadelphia, United States

Non-invasive morphological biomarkers to improve early diagnosis and prognosis of sleep obstructive apnea and dementia in Down syndrome
Nieves  Martínez-Abadías, PhD
Universitat de Barcelona. Barcelona, Spain

Memory engram pathology and underlying cellular and molecular alterations in Down syndrome
Maria del Mar Dierssen Sotos, PhD
Centre for Genomic Regulation. Barcelona, Spain

Deciphering the role of DYRK1A and GSK3beta at the crossroads of insulin secretion and sensitivity and cognitive dysfunction in Down syndrome
Nathalie Janel, Prof.
Université Paris Diderot. Paris, France

Role of SOD1 in hippocampal long-term depression and its relevance for altered plasticity in Trisomy 21
Maria Luz Montesinos, PhD
Universidad de Sevilla.  Sevilla, Spain

Neural basis of locomotor dysfunction in Down syndrome
Aaron Sathyanesan, PhD
Children’s National Medical Center. Washington D.C., United States

Exercise as an Intervention for Sleep and Memory in Youth with Down syndrome
Alison Luongo
University of Arizona. Tucson, United States

Correction of Dyrk1a-related Down syndrome skeletal phenotypes during developmentally sensitive periods
Randall Roper, Prof.
Indiana University-Purdue University Indianapolis. Indianapolis, United States

Investigating the therapeutic relevance of the GABAergic and endocannabinoid systems in patients with Down syndrome
Jean-Francois Lepage, PhD
Centre Hospitalier Universitaire de Sherbrooke. Sherbrooke, Canada

New Strategies and Approaches to Tackle Neurological Disorders
Mauro Costa, PhD
Baylor College of Medicine. Houston, United States