Journal article
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16579 Newborns by Using a Novel Genomic Workflow
DE Godler, L Ling, D Gamage, EK Baker, M Bui, MJ Field, C Rogers, MG Butler, A Murgia, E Leonardi, R Polli, CE Schwartz, CD Skinner, AM Alliende, L Santa Maria, J Pitt, R Greaves, D Francis, R Oertel, M Wang Show all
JAMA Network Open | AMER MEDICAL ASSOC | Published : 2022
Abstract
Importance: Newborn screening for Angelman syndrome (AS), Prader-Willi syndrome (PWS), and chromosome 15 duplication syndrome (Dup15q) may lead to benefit from early diagnosis and treatment. Objective: To examine the feasibility of newborn screening for these chromosome 15 imprinting disorders at population scale. Design, Setting, and Participants: In this diagnostic study, the validation data set for the first-tier SNRPN test, called methylation-specific quantitative melt analysis (MS-QMA), included 109 PWS, 48 AS, 9 Dup15q, and 1190 population control newborn blood spots (NBS) and peripheral tissue samples from participants recruited from January 2000 to December 2016. The test data set in..
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Awarded by Murdoch Children's Research Institute
Funding Acknowledgements
This study was supported by the Victorian Government's Operational Infrastructure Support Program, with the salaries supported by National Health and Medical Research Council project grants (No. 1049299 and No. 1103389 to Dr Godler); Murdoch Children's Research Institute, Royal Children's Hospital Foundation (to Dr Godler); Next Generation Clinical Researchers Program-Career Development Fellowship, funded by the Medical Research Future Fund (MRF1141334 to Dr Godler); the Financial Markets Foundation for Children (Australia; No. 2017-361 to Drs Godler and Amor); the Genetics of Learning Disability (GOLD) Service (Dr Field); the Foundation for Prader-Willi Syndrome Research, USA (No. 43445 and No. 501393 to Drs Godler and Amor); the National Institute of Child Health and Human Development (No. HD02528 to Dr Butler); the Angelman Syndrome Foundation (to Dr Godler); Victorian Medical Research Acceleration Fund (to Dr Godler) and joint funding from the Prader-Willi Syndrome Association (Australia) (to Dr Godler); Foundation for Angelman Syndrome Therapeutics (Australia) (to Dr Godler) and Dup15q Australia Ltd (to Dr Godler). This study was also supported, in part, by a grant from the South Carolina Department of Disabilities and Special Needs (to Dr Schwartz).