title: Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society.
abstract: Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) in humans with an incidence of ∼1:1,000 live births worldwide. It is caused by the presence of an extra copy of all or a segment of the long arm of human chromosome 21 (trisomy 21). People with DS present with a constellation of phenotypic alterations involving most organs and organ systems. ID is present in all people with DS, albeit with variable severity. DS is also the most frequent genetic cause of Alzheimer's disease (AD), and ∼50% of those with DS will develop AD-related dementia. In the last few years, significant progress has been made in understanding the crucial genotype-phenotype relationships in DS, in identifying the alterations in molecular pathways leading to the various clinical conditions present in DS, and in preclinical evaluations of potential therapies to improve the overall health and well-being of individuals with DS. In June 2015, 230 scientists, advocates, patients, and family members met in Paris for the 1st International Conference of the Trisomy 21 Research Society. Here, we report some of the most relevant presentations that took place during the meeting.
authors.affiliation: Brain and Spine Institute, Hospital Pitié-Salpêtrière, Paris, France; University of Paris Diderot, Paris, France.
authors.forename: Jean-Maurice
authors.initials: JM
authors.lastname: Delabar
authors.affiliation: Centre de Psychiatrie and Neurosciences, INSERM, Paris, France.
authors.forename: Bernadette
authors.initials: B
authors.lastname: Allinquant
authors.affiliation: Tufts Medical Center, Medford, Mass., USA.
authors.forename: Diana
authors.initials: D
authors.lastname: Bianchi
authors.affiliation: Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, Colo., USA.
authors.forename: Tom
authors.initials: T
authors.lastname: Blumenthal
authors.affiliation: Department of Neurology, University Medical Center, Groningen, The Netherlands.
authors.forename: Alain
authors.initials: A
authors.lastname: Dekker
authors.affiliation: Department of Psychology, University of Arizona, Tucson, Ariz., USA.
authors.forename: Jamie
authors.initials: J
authors.lastname: Edgin
authors.affiliation: Department of Pharmacology, University of Illinois at Chicago, Chicago, Ill., USA.
authors.forename: John
authors.initials: J
authors.lastname: O'Bryan
authors.affiliation: Center for Genomic Regulation (CRG), Barcelona, Spain.
authors.forename: Mara
authors.initials: M
authors.lastname: Dierssen
authors.affiliation: Brain and Spine Institute, Hospital Pitié-Salpêtrière, Paris, France.
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Potier
authors.affiliation: Institute of Neurology, University College, London, UK.
authors.forename: Frances
authors.initials: F
authors.lastname: Wiseman
authors.affiliation: Tufts Medical Center, Medford, Mass., USA.
authors.forename: Faycal
authors.initials: F
authors.lastname: Guedj
authors.affiliation: Brain and Spine Institute, Hospital Pitié-Salpêtrière, Paris, France; University of Paris Diderot, Paris, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Créau
authors.affiliation: John Hopkins University School of Medicine, Baltimore, Md., USA.
authors.forename: Roger
authors.initials: R
authors.lastname: Reeves
authors.affiliation: Department of Pediatrics, University of Colorado, Aurora, Colo., USA.
authors.forename: Katheleen
authors.initials: K
authors.lastname: Gardiner
authors.affiliation: Department of Neurobiology and Behavior, University of California-Irvine, Irvine, Calif., USA.
authors.forename: Jorge
authors.initials: J
authors.lastname: Busciglio
keywords: Down Syndrome; Trisomy 21 Research Society