Journal article
DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders
David E Godler, David J Amor, M Blewitt (ed.)
Essays in Biochemistry | PORTLAND PRESS LTD | Published : 2019
DOI: 10.1042/EBC20190056
Abstract
DNA methylation (mDNA) plays an important role in the pathogenesis of neurodevelopmental disorders (NDDs), however its use in diagnostic testing has been largely restricted to a handful of methods for locus-specific analysis in monogenic syndromes. Recent studies employing genome-wide methylation analysis (GWMA) have explored utility of a single array-based test to detect methylation changes in probands negative by exome sequencing, and to diagnose different monogenic NDDs with defined epigenetic signatures. While this may be a more efficient approach, several significant barriers remain. These include non-uniform and low coverage of regulatory regions that may have CG-rich sequences, and lo..
View full abstractGrants
Awarded by Financial Markets Foundation for Children (Australia) (FMFC)
Awarded by National Health and Medical Research Council (NHMRC)
Awarded by Next Generation Clinical Researchers Program - Career Development Fellowship - Medical Research Future Fund
Awarded by Foundation for Prader Willi Research, U.S.A.
Funding Acknowledgements
This work was supported by The Victorian Government's Operational Infrastructure Support Program; the Murdoch Children's Research Institute; the Royal Children's Hospital Foundation; the Financial Markets Foundation for Children (Australia) (FMFC) [grant number: 2017-361]; the National Health and Medical Research Council (NHMRC) [grant numbers 1049299, 1103389]; the Next Generation Clinical Researchers Program - Career Development Fellowship Funded by the Medical Research Future Fund [grant number 1141334 (to D.E.G.)]; the Foundation for Prader Willi Research, U.S.A. [grant number 43445]; the Victorian Medical Research Acceleration Fund, AUS; and the Angelman Syndrome Foundation, U.S.A.