Funded projects 2018

Number of projects: 24

Total amount funded: 991.784 €

Molecular bases in the effectiveness of the treatment of Williams-Beuren syndrome by inhibitors of the monoacyl glycerol lipase
Victoria Campuzano, PhD
Universitat Pompeu Fabra. Barcelona, Spain

Macrolide induced correction of mutations causing Rett syndrome (RTT)
Rina Rosin-Arbesfeld, PhD
Tel Aviv University. Tel Aviv, Israel

Definition of a novel therapeutic approach for Fragile X syndrome
Barbara Bardoni, PhD
Institute of Molecular and Cellular Pharmacology. Valbonne, France

Analysis of contribution of Wdr4, a critical gene located in Abcg1-U2af1 region, to the neurodevelopmental abnormalities of Down syndrome
Juliette Godin, PhD
Institut de Génétique et de Biologie Moléculaire et Cellulaire. Illkirch, France

Consequences of the missense R138Q Fragile X mutation on the regulation of the FMRP function
Stéphane Martin, PhD
Institut de Pharmacologie Moléculaire et Cellulaire. Valbonne, France

Direct and indirect drugs modulation of Rab39b mutant mice-related behavioral deficits
Patrizia D’Adamo, Dr.
Institute of Experimental Neurology-Ospedale San Raffaele. Milan, Italy

Critical timing of oxytocin treatment
Françoise Muscatelli, PhD
Institut de Neurobiologie de la Méditerranée. Marseille, France 

Investigating ocular morphological differences as the possible cause of accommodation deficits in Down’s syndrome
Valldeflors Vinuela-Navarro, PhD
School of Life and Health Sciences. Birmingham, United Kingdom

Innovative strategy to enhance the efficiency of brain gene therapy for the CDKL5 neurodevelopmental disorder
Elisabetta Ciani, PhD
University of Bologna. Bologna, Italy

The roles of biological clock deregulation and retinoic acid signalling impairment in Smith-Magenis syndrome
Jessica Rosati, PhD
Casa Sollievo della Sofferenza- Mendel Institute San Giovanni Rotondo. Foggia, Italy

Congenital cREatine transporter Disorder: Insights into new Therapeutic preclinical strategies
Aloise Mabondzo, PhD
Commissariat à l’Energie Atomique. Gif-sur-Yvette, France

Trisomie 21 et Leucémies Aigües Myéloïdes: Rôle du facteur de transcription RIP140
Vincent Cavailles, PhD
Institut de Recherche en Cancérologie de Montpellier. Montpellier, France

Sleep as a predictor of memory performance and stability in ID syndromes
Jamie Edgin, PhD
University of Arizona. Tucson, United States

Examining recall memory and generalization in children with Down syndrome and neurotypical controls matched on developmental age
Angela Lukowski, PhD
University of California, Irvine, United States

Patterns and causes of hospital admission, comorbidities and mortality of Spanish adults with Down Syndrome 2005 – 2014
Paloma Aparicio, MD
Hospital Universitario de la Princesa. Madrid, Spain      

Understanding Down syndrome as a neuro-skeletal disorder: towards integrated treatment of brain, bones and cognition
Greetje Vande Velde, PhD
KU Leuven, University of Leuven. Leuven, Belgium

Dendritic inhibition in animal models of cognitive disabilities
Javier Zorrilla de San Martin, PhD
Institut du Cerveau et de la Moelle Epiniere. Paris, France

Neural activity patterns underlying cognitive normalization by EGCG and GABAA 5IA in the Ts65Dn mouse model of Down syndrome
Maria Victoria Puig Velasco, PhD
Institut Hospital del Mar d’Investigations Mèdiques. Barcelona, Spain

3rd International Meeting of the Trisomy 21 Research Society
Mara Dierssen Sotos, PhD
Centre for Genomic Regulation. Barcelona, Spain

The impact of Alzheimer’s disease on sleep in adults with Down syndrome
Sandra Gimenez Badia. PhD
Hospital de la Santa Creu and Sant Pau. Barcelona, Spain

Optimising daytime and cardiovascular function in children with Down syndrome through treatment of Obstructive Sleep Apnoea
Rosemary Horne, PhD DSc
Monash University and Hudson Institute of Medical Research. Melbourne, Australia

RCAN1, synaptic plasticity, and neuronal phosphatase dysregulation in Down syndrome
Charles Hoeffer, PhD
University of Colorado. Boulder, United States

Targeting DYRK1A: a key player in Down syndrome Leukaemogenesis
Sébastien Malinge, PhD
University of Western Australia. Nedlands, Australia

The neurocognitive bases of trust in Down syndrome: Affective evaluation, trait attribution, and epistemic vigilance
Olivier Mascaro, PhD
Institut des Sciences Cognitives. Bron, France