Abstract

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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