Funded projects 2021

Number of projects: 28


Total amount funded: 1.368.296 €

Functional and genomic characterization of interneurons in mouse Fragile X brain: a pilot study to pave the way for cell-replacement therapy
Barbara Bardoni
Institut de Pharmacologie Moléculaire et Cellulaire. Valbonne, France

Targeting the adipocyte hormone leptin to treat Rett Syndrome-associated cognitive deficits
Jean-Luc Gaiarsa
Institut de Neurobiologie de la Méditerranée. Marseille, France

Dissecting Interplay between 3-D chromatin architecture and transcriptional profiles in Type 1 Kabuki syndrome
Giuseppe Merla
IRCCS Casa Sollievo della Sofferenza. San Giovanni Rotondo. Italy

GM1-oligosaccharide as a new drug candidate for Rett syndrome
Elena Chiricozzi
Università degli Studi di Milano. Segrate, Italy

BET inhibition as a novel approach to counteract cholesterol metabolism defects in Rett Syndrome
Marco Segatto
Università degli Studi del Molise. Pesche, Italy

Ampakine-mediated modulation of neuronal activity for the treatment of Rett syndrome: proposal for a preclinical study
Nicoletta Landsberger
Università degli Studi di Milano. Segrate, Italy

An investigation on the MeCP2-early life stress interaction effects in anxiety sensitivity later in life in a mouse model of Rett syndrome
Mónica Santos
Center for Neuroscience and Cell Biology. Coimbra, Portugal

Unravelling the Cellular and Molecular Basis of Treatment Resistance in Down Syndrome Children with Acute Lymphoblastic Leukaemia
Carlos Aya-Bonilla
Telethon Kids Institute, Perth Children’s Hospital

Understanding the neuronal and synaptic dysfunctions caused by deletions and mutations of TCF20 intellectual disability gene
Carlo Sala
CNR Istituto di Neuroscienze. Vedano al Lambro. Italy

Dyrk1a: looking at the retina to see the brain
Michel Roux
Institut de Génétique et de Biologie Moléculaire et Cellulaire. Illkirch. France

Executive Function Intervention for Young Children with Down Syndrome
Deborah Fidler
Colorado State University. Fort Collins. United States

Investigating the functional consequences of Oligophrenin-1 sumoylation in X-Linked Intellectual Disability
Alessandra Folci
CNR Istituto di Neuroscienze. Vedano al Lambro. Italy

Analysis of the immune response before and after vaccination against SARS-CoV-2 in adults with Down syndrome
Diego Real de Asua
Hospital Universitario de La Princesa. Madrid, Spain

Use of relevant human neural cell models to study the pathophysiological mechanisms associated to alterations of DYRK1A and its nuclear activities
Amélie Piton
Institut de Génétique et de Biologie Moléculaire et Cellulaire. Illkirch, France

MID1-defined membraneless organelles at the basis of Opitz G/BBB intellectual disabilities
Germana Meroni
Università degli studi di Trieste. Trieste, Italy

Pharmacological treatment with sphingosine receptor modulating drugs to correct glycosphingolipid metabolic derangements in Rett syndrome models
Floriana Della Ragione
Institute of Genetics and Biophysiscs, CNR. Naples, Italy

Role of oligodendrocytes in the pathogenesis of intellectual disability: study of PAK1-S110T and Ts66Yah new mouse models
Lamia Bouslama-Oueghlani
Institut du Cerveau et de la Moelle Epinière. Paris, France

Assessment of socioemotional skills in Down Syndrome
Paula Martinelli
Fundación Síndrome de Down de Madrid. Madrid, Spain

A novel humanised App – DS mouse model series: a platform for in vivo mechanistic and intervention testing studies
Frances Wiseman
UK Dementia Research Institute at University College London. London, United Kingdom

Probing the impact of trisomy 21 on the histone code using human cellular models
Lindy Barrett
Broad Institute Stanley Center. Cambridge United States

The utility of brain computed tomography for the diagnosis and tracking of Alzheimer’s disease in adults with Down syndrome
Beatriz Sánchez Moreno
Hospital Universitario La Princesa. Madrid, Spain

A Longitudinal Outcome Study of the Symptom Progression and Diagnostic Stability of Autism in Children with Down syndrome
Elizabeth Will
University of South Carolina. South-Carolina, United States

Fluoxetine treatment of depression in adults with Down syndrome
Robyn Thom
Massachusetts General Hospital. MGH Lurie Center for Autism. Lexington, United States

Do B cells promote Alzheimer’s disease-related symptoms in Down syndrome?
Eitan Okun
Bar Ilan University. Ramat Gan, Israel

Thyroid hormones metabolism and action in astrocytes and neurons differentiated from induced pluripotent stem cells of individuals with Down syndrome
Bruna Lancia Zampieri
Albert Einstein Jewish Institute for Education and Research. Sao Paulo, Brazil

Small-molecule inhibition of genomic instability-driven senescence in Down Syndrome
Elsa Logarinho
Instituto de Investigaçao e Inovaçao em Saude (i3S), University of Porto. Porto, Portugal

1st International Symposium on Down Syndrome and Leukaemia: From Basic Mechanisms to Clinical Advances
Sébastien Malinge
University of Western Australia, Telethon Kids Institute. Nedlands, Australia

4th International Conference of the T21RS
Jorge Busciglio
T21 RESEARCH SOCIETY. Groningen, The Netherlands


Last updated 26/11/2021