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Going back to the future with Guthrie-powered epigenome-wide association studies

Mark N Cruickshank1, James Pitt2 and Jeffrey M Craig3*

Author Affiliations

1 Division of Leukaemia and Cancer Research, Telethon Institute for Child Health Research, Centre for Child Health, University of Western Australia, WA, Australia

2 Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, VIC, Australia

3 Early Life Epigenetics Group, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia

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Genome Medicine 2012, 4:83  doi:10.1186/gm384

Published: 30 October 2012


Epigenome-wide association studies (EWAS) can be used to investigate links between early life environment, epigenetics and disease. However, such studies raise the question of which came first: the mark or the malady? A recent study has demonstrated that EWAS can be performed on neonatal 'Guthrie' heel-prick blood spots. As Guthrie cards are collected from all newborn infants and stored indefinitely in many countries, they represent an important timepoint to compare with later disease-associated epigenetic marks.

biomarkers; DNA; epigenetics; Guthrie cards; newborn screening