Autism genetics: opportunities and challenges for clinical translation

Vorstman, Jacob A. S., Parr, Jeremy R., Moreno-De-Luca, Daniel, Anney, Richard ORCID: https://orcid.org/0000-0002-6083-407X, Nurnberger Jr, John I. and Hallmayer, Joachim F. 2017. Autism genetics: opportunities and challenges for clinical translation. Nature Reviews Genetics 18 (6) , pp. 362-376. 10.1038/nrg.2017.4

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Abstract

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Nature Publishing Group
ISSN:	1471-0056
Date of First Compliant Deposit:	23 May 2017
Date of Acceptance:	16 February 2017
Last Modified:	05 Dec 2024 16:00
URI:	https://orca.cardiff.ac.uk/id/eprint/100783

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