Journal article
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing
M Ball, SE Bouffler, CB Barnett, ML Freckmann, MF Hunter, B Kamien, KS Kassahn, S Lunke, CV Patel, J Pinner, T Roscioli, SA Sandaradura, HS Scott, TY Tan, M Wallis, AG Compton, DR Thorburn, Z Stark, J Christodoulou
Genetics in Medicine | ELSEVIER SCIENCE INC | Published : 2025
Abstract
Purpose: To characterize the diagnostic and clinical outcomes of a cohort of critically ill infants and children with suspected mitochondrial disorders (MD) undergoing ultrarapid genomic testing as part of a national program. Methods: Ultrarapid genomic sequencing was performed in 454 families (genome sequencing: n = 290, exome sequencing +/− mitochondrial DNA sequencing: n = 164). In 91 individuals, MD was considered, prompting analysis using an MD virtual gene panel. These individuals were reviewed retrospectively and scored according to modified Nijmegen Mitochondrial Disease Criteria. Results: A diagnosis was achieved in 47% (43/91) of individuals, 40% (17/43) of whom had an MD. Seven ad..
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Grants
Awarded by Channel 7 Children's Research Foundation
Funding Acknowledgements
The Acute Care Genomics program was funded by the Medical Research Futures Fund, Genomics Health Futures Mission (GHFM76747) , Royal Children's Hospital Foundation grants (2020-1259 and 2017-906) , Channel 7 Children's Research Foundation, Queensland Genomics, Australian Genomics (National Health and Medical Research Council grants GNT1113531 and GNT2000001) ,and the Sydney Children's Hospital Network. This research was supported by grants and fellowships from the Australian National Health and Medical Research Council (GNT1155244 and GNT1164479) and the US Department of Defense Congressionally Directed Medical Research Programs PR170396. We acknowledge the Mito Foundation and Bio21 Mass Spectrometry and Proteomics Facility for the provision of instrumentation, training, and technical support. M.B. is supported by a Melbourne Academic Centre for Health Clinician-Researcher Scholarship and a Mito Foundation PhD Top-Up Scholarship. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children's Hospital Foundation.