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 O Edgin, John O'Bryan, Mara Dierssen, Marie Claude Potier, Frances Wiseman, Faycal Guedj, Nicole Créau, Roger Reeves, Katheleen Gardiner, Jorge Busciglio

Research output: Contribution to journalArticle

5 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 (US)
Pages (from-to)251-261
Number of pages11
JournalMolecular Syndromology
Volume7
Issue number5
DOIs
StatePublished - Oct 1 2016

Fingerprint

Down Syndrome
Research
Intellectual Disability
Alzheimer Disease
Chromosomes, Human, Pair 21
Live Birth
Human Chromosomes
Paris
Dementia
Genotype
Phenotype
Incidence
Health

Keywords

  • Down Syndrome
  • Trisomy 21 Research Society

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Delabar, J. M., Allinquant, B., Bianchi, D., Blumenthal, T., Dekker, A., Edgin, J. O., ... Busciglio, J. (2016). Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society. Molecular Syndromology, 7(5), 251-261. https://doi.org/10.1159/000449049

Changing Paradigms in Down Syndrome : The First International Conference of the Trisomy 21 Research Society. / Delabar, Jean Maurice; Allinquant, Bernadette; Bianchi, Diana; Blumenthal, Tom; Dekker, Alain; Edgin, Jamie O; O'Bryan, John; Dierssen, Mara; Potier, Marie Claude; Wiseman, Frances; Guedj, Faycal; Créau, Nicole; Reeves, Roger; Gardiner, Katheleen; Busciglio, Jorge.

In: Molecular Syndromology, Vol. 7, No. 5, 01.10.2016, p. 251-261.

Research output: Contribution to journalArticle

Delabar, JM, Allinquant, B, Bianchi, D, Blumenthal, T, Dekker, A, Edgin, JO, O'Bryan, J, Dierssen, M, Potier, MC, Wiseman, F, Guedj, F, Créau, N, Reeves, R, Gardiner, K & Busciglio, J 2016, 'Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society', Molecular Syndromology, vol. 7, no. 5, pp. 251-261. https://doi.org/10.1159/000449049
Delabar, Jean Maurice ; Allinquant, Bernadette ; Bianchi, Diana ; Blumenthal, Tom ; Dekker, Alain ; Edgin, Jamie O ; O'Bryan, John ; Dierssen, Mara ; Potier, Marie Claude ; Wiseman, Frances ; Guedj, Faycal ; Créau, Nicole ; Reeves, Roger ; Gardiner, Katheleen ; Busciglio, Jorge. / Changing Paradigms in Down Syndrome : The First International Conference of the Trisomy 21 Research Society. In: Molecular Syndromology. 2016 ; Vol. 7, No. 5. pp. 251-261.
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