TY - JOUR
T1 - Changing Paradigms in Down Syndrome
T2 - The First International Conference of the Trisomy 21 Research Society
AU - Delabar, Jean Maurice
AU - Allinquant, Bernadette
AU - Bianchi, Diana
AU - Blumenthal, Tom
AU - Dekker, Alain
AU - Edgin, Jamie
AU - O'Bryan, John
AU - Dierssen, Mara
AU - Potier, Marie Claude
AU - Wiseman, Frances
AU - Guedj, Faycal
AU - Créau, Nicole
AU - Reeves, Roger
AU - Gardiner, Katheleen
AU - Busciglio, Jorge
PY - 2016/10/1
Y1 - 2016/10/1
N2 - 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.
AB - 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.
KW - Down Syndrome
KW - Trisomy 21 Research Society
U2 - 10.1159/000449049
DO - 10.1159/000449049
M3 - Article
AN - SCOPUS:84988642837
SN - 1661-8769
VL - 7
SP - 251
EP - 261
JO - Molecular Syndromology
JF - Molecular Syndromology
IS - 5
ER -