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

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..

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Grants

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.