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

Jean Maurice Delabar, Bernadette Allinquant, Diana Bianchi, Tom Blumenthal, Alain Dekker, Jamie Edgin, John O'Bryan, Mara Dierssen, Marie Claude Potier, Frances Wiseman, Faycal Guedj, Nicole Créau, Roger Reeves, Katheleen Gardiner, Jorge Busciglio*

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    13 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)251-261
    Number of pages11
    JournalMolecular Syndromology
    Volume7
    Issue number5
    DOIs
    Publication statusPublished - 1-Oct-2016

    Keywords

    • Down Syndrome
    • Trisomy 21 Research Society

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