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Human Molecular Genetics 2009 18(R1):R75-R83; doi:10.1093/hmg/ddp010
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© 2009 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Down syndrome—recent progress and future prospects

Frances K. Wiseman1,*, Kate A. Alford2, Victor L.J. Tybulewicz2 and Elizabeth M.C. Fisher1

1 Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Division of Immune Cell Biology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK

* To whom correspondence should be addressed. Tel: +44 20 7837 3611; Fax: +44 20 7676 2080; Email: f.wiseman{at}prion.ucl.ac.uk

Received December 19, 2008; Revised December 19, 2008; Accepted January 5, 2009

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.


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