Journal article

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Zimeng Ye, Zac Chatterton, Jahnvi Pflueger, John A Damiano, Lara McQuillan, Anthony Simon Harvey, Stephen Malone, Hongdo Do, Wirginia Maixner, Amy Schneider, Bernadette Nolan, Martin Wood, Wei Shern Lee, Greta Gillies, Kate Pope, Michael Wilson, Paul J Lockhart, Alexander Dobrovic, Ingrid E Scheffer, Melanie Bahlo Show all

BRAIN COMMUNICATIONS | OXFORD UNIV PRESS | Published : 2021

Abstract

Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism can be detected only in the rare situations of autopsy or brain biopsy. Liquid biopsy using cell-free DNA derived from cerebrospinal fluid has detected somatic mutations in malignant brain tumours. Here, we asked if cerebrospinal fluid liquid biopsy can be used to detect somatic mosaicism in non-malignant brain diseases. First, we reliably quantified cerebrospinal fluid cell-free DNA in 28 patients with focal epilepsy and 28 controls using droplet digital P..

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Grants

Awarded by National Health and Medical Research Council


Awarded by R.D Wright Career Development Fellowship


Awarded by Australian Research Council (ARC) Centre of Excellence in Plant Energy Biology


Funding Acknowledgements

This study was supported by National Health and Medical Research Council Program Grant (1091593) to I.E.S. and S.F.B., a Project Grant (1129054) to S.F.B., a Project Grant (1079058) to M.S.H., a Practitioner Fellowship (1006110) to I.E.S., a Senior Research Fellowship (1102971) to M.B., and a R.D Wright Career Development Fellowship (1063799) to M.S.H. R.J.L. was supported by a Melbourne Children's Clinician Scientist Fellowship and P.J.L. was supported by the Vincent Ciodo Foundation. Z.Y. was supported by a University of Melbourne Australian Postgraduate Award International Graduate Research Training Scholarship, and a private scholarship from the Tang Lixin Education Development Fund. This study was also supported by an Australian Epilepsy Research Fund Scheme Grant from the Epilepsy Foundation to M.S.H. Z.C. was supported by a University of Sydney Postdoctoral Fellowship. R.L. was supported by a Sylvia and Charles Viertel Senior Medical Research Fellowship, Howard Hughes Medical Institute International Research Scholarship and the Australian Research Council (ARC) Centre of Excellence in Plant Energy Biology (CE140100008).