Journal article
Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns
M Alshawsh, M Wake, J Gecz, M Corbett, R Saffery, J Pitt, R Greaves, K Williams, M Field, J Cheong, M Bui, S Arora, S Sadedin, S Lunke, M Wall, DJ Amor, DE Godler
Epigenomics | TAYLOR & FRANCIS LTD | Published : 2024
Abstract
This study describes a protocol to assess a novel workflow called Epi-Genomic Newborn Screening (EpiGNs) on 100,000 infants from the state of Victoria, Australia. The workflow uses a first-tier screening approach called methylation-specific quantitative melt analysis (MS-QMA), followed by second and third tier testing including targeted methylation and copy number variation analyzes with droplet digital PCR, EpiTYPER system and low-coverage whole genome sequencing. EpiGNs utilizes only two 3.2 mm newborn blood spot punches to screen for genetic conditions, including fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, Dup15q syndrome and sex chromosome aneuploidies. The program aims..
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Awarded by Murdoch Children's Research Institute
Funding Acknowledgements
The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. The salaries were supported by National Health and Medical Research Council project grants (No. 1049299 and No. 1103389 to DE Godler); Murdoch Children's Research Institute, Royal Children's Hospital Foundation (to DE Godler); Next Generation Clinical Researchers Program-Career Development Fellowship, by the Medical Research Future Fund (MRF1141334 to DE Godler); the Genomics Health Futures Mission (MRFF2016199 to DE Godler), the Financial Markets Foundation for Children (Australia; No. 2017-361 to DE Godler and DJ Amor); the Genetics of Learning Disability (GOLD) Service (M Field); the Foundation for Prader- Willi Syndrome Research, USA (No. 43445 and No. 501393 to DE Godler and DJ Amor); the Angelman Syndrome Foundation (to DE Godler); Victorian Medical Research Acceleration Fund (to DE Godler) and joint funding from the Prader-Willi Syndrome Association (Australia) (to DE Godler); Foundation for Angelman Syndrome Therapeutics (Australia) (to DE Godler) and Dup15q Australia Ltd (to DE Godler).