Down syndrome: From understanding the neurobiology to therapy

Katheleen Gardiner, Yann Herault, Ira T. Lott, Stylianos E. Antonarakis, Roger H. Reeves, Mara Dierssen

Research output: Contribution to journalArticlepeer-review

82 Scopus citations


Downsyndrome (DS) is the most common example of a neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of human chromosome 21 producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. Understanding the consequences of dosage imbalance attributable to trisomy 21 (T21) has accelerated because of recent advances in genome sequencing, comparative genome analysis, functional genome exploration, and the use of model organisms. This has led to new evidence-based therapeutic approaches to prevention or amelioration of T21 effects on brain structure and function (cognition) and has important implications for other areas of research on the neurogenomics of cognition and behavior.

Original languageEnglish (US)
Pages (from-to)14943-14945
Number of pages3
JournalJournal of Neuroscience
Issue number45
StatePublished - Nov 10 2010

ASJC Scopus subject areas

  • Medicine(all)


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