Perspectives

Nature Reviews Genetics 6, 137-147 (February 2005) | doi:10.1038/nrg1525

Subject Category: History of genetic disease

Article series: History of genetic disease

History of genetic disease: Down syndrome and genetics — a case of linked histories

David Patterson1 & Alberto C. S. Costa1  About the authors

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Down syndrome, the most common genetic cause of intellectual disabilities, was first described in 1866, during an era of great change in our understanding of genetics and evolution. Because of its importance, the history of research on Down syndrome parallels the history of human genetics. In many instances, research on Down syndrome has inspired progress in human genetics. In this article, we describe the interplay between advances in the understanding of genetics and the understanding of Down syndrome from its initial description to the present, and on the basis of this historical perspective, speculate briefly about the future of research on Down syndrome.

Author affiliations

  1. David Patterson and Alberto C. S. Costa are at the Eleanor Roosevelt Institute and the Department of Biological Sciences at the University of Denver and also at the Department of Psychiatry, University of Colorado Health Sciences Center, 1899 Gaylord Street, Denver, Colorado 80206, USA.

Correspondence to: David Patterson1 Email: dpatter2du.edu

Published online 10 January 2005

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