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Scientific article
English

The challenge of Down syndrome

Contributors

Antonarakis, Stylianos; Epstein, C. J.

Published in

Trends in molecular medicine, vol. 12, no. 10, p. 473-479

Publication date

2006

Abstract

Down syndrome (DS) has been recognized as a clinical entity for about 150 years, but it is only recently that there has been hope for the possibility to understand its pathogenesis and to use this information to devise approaches for the prevention and treatment of its numerous features. The earlier pessimism was due to several reasons, including: (i) the nature of the genetic defect that leads to the syndrome; (ii) the multiplicity of systems involved; and (iii) the high degree of variability of the phenotype. However, science has now caught up with the problem, and recent developments, especially in genetics, genomics, developmental biology and neuroscience, suggest that these potential impediments might not be as arduous as once appeared. As a result, basic research on DS is now rapidly accelerating, and there is hope that the findings will be translatable into benefit for people with DS.

Keywords

  • Animals
  • Chromosomes, Human, Pair 21/genetics
  • Disease Models, Animal
  • Down Syndrome/genetics/ physiopathology
  • Genetic Variation
  • Humans
  • Multigene Family

UNIGE affiliation entities

Citation (ISO format)

ANTONARAKIS, Stylianos, EPSTEIN, C. J. The challenge of Down syndrome. In: Trends in molecular medicine, 2006, vol. 12, n° 10, p. 473–479. doi: 10.1016/j.molmed.2006.08.005

Main files (1)

Article

Identifiers

Journal ISSN

1471-4914
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