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. 2016 Oct;7(5):251-261.
doi: 10.1159/000449049. Epub 2016 Sep 16.

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

Jean-Maurice Delabar  1 , Bernadette Allinquant  2 , Diana Bianchi  3 , Tom Blumenthal  4 , Alain Dekker  5 , Jamie Edgin  6 , John O'Bryan  7 , Mara Dierssen  8 , Marie-Claude Potier  9 , Frances Wiseman  10 , Faycal Guedj  3 , Nicole Créau  1 , Roger Reeves  11 , Katheleen Gardiner  12 , Jorge Busciglio  13
Affiliations

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

Jean-Maurice Delabar et al. Mol Syndromol. 2016 Oct.

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.

Keywords: Down Syndrome; Trisomy 21 Research Society.

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References

    1. Adorno M, Sikandar S, Mitra SS, Kuo A, Nicolis Di Robilant B, et al. Usp16 contributes to somatic stem-cell defects in Down's syndrome. Nature. 2013;501:380–384. - PMC - PubMed
    1. Ash JA, Velazquez R, Kelley CM, Powers BE, Ginsberg SD, et al. Maternal choline supplementation improves spatial mapping and increases basal forebrain cholinergic neuron number and size in aged Ts65Dn mice. Neurobiol Dis. 2014;70:32–42. - PMC - PubMed
    1. Bianchi DW. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nature Med. 2012;18:1041–1051. - PMC - PubMed
    1. Blehaut H, Mircher C, Ravel A, Conte M, De Portzamparc V, et al. Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status. PLoS One. 2010;5:e8394. - PMC - PubMed
    1. Cossec JC, Lavaur J, Berman DE, Rivals I, Hoischen A, et al. Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. Hum Mol Genet. 2012;21:3156–3172. - PMC - PubMed