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Down syndrome-recent progress and future prospects

Wiseman, FK; Alford, KA; Tybulewicz, VLJ; Fisher, EMC; (2009) Down syndrome-recent progress and future prospects. HUM MOL GENET , 18 R75 - R83. 10.1093/hmg/ddp010. Green open access

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Abstract

Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. Individuals with DS are affected by these phenotypes to a variable extent; understanding the cause of this variation is a key challenge. Here, we review recent research progress in DS, both in patients and relevant animal models. In particular, we highlight exciting advances in therapy to improve cognitive function in people with DS and the significant developments in understanding the gene content of Hsa21. Moreover, we discuss future research directions in light of new technologies. In particular, the use of chromosome engineering to generate new trisomic mouse models and large-scale studies of genotype-phenotype relationships in patients are likely to significantly contribute to the future understanding of DS.

Type: Article
Title: Down syndrome-recent progress and future prospects
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/hmg/ddp010
Publisher version: http://www.ncbi.nlm.nih.gov/pmc/ articles/PMC26579...
Keywords: ACUTE MEGAKARYOBLASTIC LEUKEMIA, TS65DN MOUSE MODEL, AGE-RELATED NEURODEGENERATION, GENE-EXPRESSION VARIATION, DOWN-SYNDROME PHENOTYPES, SYNDROME CRITICAL REGION, GENOME-WIDE ASSOCIATION, ALZHEIMERS-DISEASE, JAK3 MUTATIONS, NEUROFIBRILLARY DEGENERATION
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > UK Dementia Research Institute
URI: https://discovery.ucl.ac.uk/id/eprint/16213
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