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Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society

Delabar, JM; Allinquant, B; Bianchi, D; Blumenthal, T; Dekker, A; Edgin, J; O'Bryan, J; ... Busciglio, J; + view all (2016) Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society. Molecular Syndromology , 7 (5) pp. 251-261. 10.1159/000449049. Green open access

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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.

Type: Article
Title: Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society
Open access status: An open access version is available from UCL Discovery
DOI: 10.1159/000449049
Publisher version: https://doi.org/10.1159/000449049
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Down Syndrome, Trisomy 21 Research Society
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > UK Dementia Research Institute
URI: https://discovery.ucl.ac.uk/id/eprint/10064285
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