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

Research focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome. The Third International Conference of T21RS, held June 6–9, 2019, in Barcelona, Spain, brought together 429 scientists, families, and industry representatives to share the latest discoveries on underlying cellular and molecular mechanisms of T21, define cognitive and behavioral challenges and better understand comorbidities associated with Down syndrome, including Alzheimer’s disease and leukemia. Presentation of cutting-edge results in neuroscience, neurology, model systems, psychology, cancer, biomarkers and molecular and pharmacological therapeutic approaches demonstrate the compelling interest and continuing advancement in all aspects of understanding and ameliorating conditions associated with T21.

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Medical vulnerability of individuals with Down syndrome to severe COVID-19–data from the Trisomy 21 Research Society and the UK ISARIC4C survey

EClinicalMedicine ◽

10.1016/j.eclinm.2021.100769 ◽

2021 ◽

Vol 33 ◽

pp. 100769 ◽

Cited By ~ 2

Author(s):

Anke Hüls ◽

Alberto C.S. Costa ◽

Mara Dierssen ◽

R. Asaad Baksh ◽

Stefania Bargagna ◽

...

Keyword(s):

Down Syndrome ◽

Trisomy 21 ◽

Research Society ◽

The Uk

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Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society

Molecular Syndromology ◽

10.1159/000494231 ◽

2018 ◽

Vol 9 (6) ◽

pp. 279-286 ◽

Cited By ~ 3

Author(s):

Roger H. Reeves ◽

Jean Delabar ◽

Marie-Claude Potier ◽

Anita Bhattacharyya ◽

Elizabeth Head ◽

...

Keyword(s):

Trisomy 21 ◽

Research Society ◽

International Conference ◽

The Way ◽

Second International

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Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome

Journal of Clinical Medicine ◽

10.3390/jcm10163748 ◽

2021 ◽

Vol 10 (16) ◽

pp. 3748

Author(s):

Diego Real de Asua ◽

Miguel A. Mayer ◽

María del Carmen Ortega ◽

Jose M. Borrel ◽

Teresa de Jesús Bermejo ◽

...

Keyword(s):

Down Syndrome ◽

Cohort Study ◽

Trisomy 21 ◽

Retrospective Cohort ◽

Mortality Rates ◽

Research Society ◽

Clinical Database ◽

Increased Risk ◽

The Mean ◽

Disease Specific

Whether the increased risk for coronavirus disease 2019 (COVID-19) hospitalization and death observed in Down syndrome (DS) are disease specific or also occur in individuals with DS and non-COVID-19 pneumonias is unknown. This retrospective cohort study compared COVID-19 cases in persons with DS hospitalized in Spain reported to the Trisomy 21 Research Society COVID-19 survey (n = 86) with admissions for non-COVID-19 pneumonias from a retrospective clinical database of the Spanish Ministry of Health (n = 2832 patients). In-hospital mortality rates were significantly higher for COVID-19 patients (26.7% vs. 9.4%), especially among individuals over 40 and patients with obesity, dementia, and/or epilepsy. The mean length of stay of deceased patients with COVID-19 was significantly shorter than in those with non-COVID-19 pneumonias. The rate of admission to an ICU in patients with DS and COVID-19 (4.3%) was significantly lower than that reported for the general population with COVID-19. Our findings confirm that acute SARS-CoV-2 infection leads to higher mortality than non-COVID-19 pneumonias in individuals with DS, especially among adults over 40 and those with specific comorbidities. However, differences in access to respiratory support might also account for some of the heightened mortality of individuals with DS with COVID-19.

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Abstracts of the 26th International Conference of the Stress and Anxiety Research Society, July 21-23, 2005, Halle (Saale), Germany

PsycEXTRA Dataset ◽

10.1037/e538922013-001 ◽

2005 ◽

Keyword(s):

Research Society ◽

International Conference

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27th International Conference of the Stress and Anxiety Research Society, July 13-15th, 2006, Rethymnon, Crete, Greece

PsycEXTRA Dataset ◽

10.1037/e539192013-001 ◽

2006 ◽

Keyword(s):

Research Society ◽

International Conference

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‘The Stuff of Slow Constitution’: Reading Down Syndrome for Race, Disability, and the Timing that Makes Them So

Somatechnics ◽

10.3366/soma.2016.0193 ◽

2016 ◽

Vol 6 (2) ◽

pp. 235-248 ◽

Cited By ~ 2

Author(s):

Mel Y. Chen

Keyword(s):

Down Syndrome ◽

Trisomy 21 ◽

Historical Perspective ◽

Early History ◽

Present Moment ◽

History Of ◽

Living Being

In this paper I would like to bring into historical perspective the interrelation of several notions such as race and disability, which at the present moment seem to risk, especially in the fixing language of diversity, being institutionalised as orthogonal in nature to one another rather than co-constitutive. I bring these notions into historical clarity primarily through the early history of what is today known as Down Syndrome or Trisomy 21, but in 1866 was given the name ‘mongoloid idiocy’ by English physician John Langdon Down. In order to examine the complexity of these notions, I explore the idea of ‘slow’ populations in development, the idea of a material(ist) constitution of a living being, the ‘fit’ or aptness of environmental biochemistries broadly construed, and, finally, the germinal interarticulation of race and disability – an ensemble that continues to commutatively enflesh each of these notions in their turn.

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Characterization of Caenorhabditis elegans Homologs of the Down Syndrome Candidate Gene DYRK1A

Genetics ◽

10.1093/genetics/163.2.571 ◽

2003 ◽

Vol 163 (2) ◽

pp. 571-580 ◽

Cited By ~ 1

Author(s):

William B Raich ◽

Celine Moorman ◽

Clay O Lacefield ◽

Jonah Lehrer ◽

Dusan Bartsch ◽

...

Keyword(s):

Down Syndrome ◽

Caenorhabditis Elegans ◽

Trisomy 21 ◽

Gene Dosage ◽

Inducible Promoters ◽

C Elegans ◽

Dual Specificity ◽

Specificity Protein

Abstract The pathology of trisomy 21/Down syndrome includes cognitive and memory deficits. Increased expression of the dual-specificity protein kinase DYRK1A kinase (DYRK1A) appears to play a significant role in the neuropathology of Down syndrome. To shed light on the cellular role of DYRK1A and related genes we identified three DYRK/minibrain-like genes in the genome sequence of Caenorhabditis elegans, termed mbk-1, mbk-2, and hpk-1. We found these genes to be widely expressed and to localize to distinct subcellular compartments. We isolated deletion alleles in all three genes and show that loss of mbk-1, the gene most closely related to DYRK1A, causes no obvious defects, while another gene, mbk-2, is essential for viability. The overexpression of DYRK1A in Down syndrome led us to examine the effects of overexpression of its C. elegans ortholog mbk-1. We found that animals containing additional copies of the mbk-1 gene display behavioral defects in chemotaxis toward volatile chemoattractants and that the extent of these defects correlates with mbk-1 gene dosage. Using tissue-specific and inducible promoters, we show that additional copies of mbk-1 can impair olfaction cell-autonomously in mature, fully differentiated neurons and that this impairment is reversible. Our results suggest that increased gene dosage of human DYRK1A in trisomy 21 may disrupt the function of fully differentiated neurons and that this disruption is reversible.

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