Autism genetics

opportunities and challenges for clinical translation

Jacob A S Vorstman, Jeremy R. Parr, Daniel Moreno-De-Luca, Richard J L Anney, John Nurnberger, Joachim F. Hallmayer

Research output: Contribution to journalArticle

62 Citations (Scopus)

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.

Original languageEnglish (US)
JournalNature Reviews Genetics
DOIs
StateAccepted/In press - Mar 6 2017

Fingerprint

Autistic Disorder
Genetic Pleiotropy
Penetrance
Protein Biosynthesis
Research
Genes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Vorstman, J. A. S., Parr, J. R., Moreno-De-Luca, D., Anney, R. J. L., Nurnberger, J., & Hallmayer, J. F. (Accepted/In press). Autism genetics: opportunities and challenges for clinical translation. Nature Reviews Genetics. https://doi.org/10.1038/nrg.2017.4

Autism genetics : opportunities and challenges for clinical translation. / Vorstman, Jacob A S; Parr, Jeremy R.; Moreno-De-Luca, Daniel; Anney, Richard J L; Nurnberger, John; Hallmayer, Joachim F.

In: Nature Reviews Genetics, 06.03.2017.

Research output: Contribution to journalArticle

Vorstman, Jacob A S ; Parr, Jeremy R. ; Moreno-De-Luca, Daniel ; Anney, Richard J L ; Nurnberger, John ; Hallmayer, Joachim F. / Autism genetics : opportunities and challenges for clinical translation. In: Nature Reviews Genetics. 2017.
@article{373e5e0f0e4043729174c7f49750881a,
title = "Autism genetics: opportunities and challenges for clinical translation",
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.",
author = "Vorstman, {Jacob A S} and Parr, {Jeremy R.} and Daniel Moreno-De-Luca and Anney, {Richard J L} and John Nurnberger and Hallmayer, {Joachim F.}",
year = "2017",
month = "3",
day = "6",
doi = "10.1038/nrg.2017.4",
language = "English (US)",
journal = "Nature Reviews Genetics",
issn = "1471-0056",
publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - Autism genetics

T2 - opportunities and challenges for clinical translation

AU - Vorstman, Jacob A S

AU - Parr, Jeremy R.

AU - Moreno-De-Luca, Daniel

AU - Anney, Richard J L

AU - Nurnberger, John

AU - Hallmayer, Joachim F.

PY - 2017/3/6

Y1 - 2017/3/6

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85014572880&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85014572880&partnerID=8YFLogxK

U2 - 10.1038/nrg.2017.4

DO - 10.1038/nrg.2017.4

M3 - Article

JO - Nature Reviews Genetics

JF - Nature Reviews Genetics

SN - 1471-0056

ER -