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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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9 hot topic(s) found with the query "Mitochondrial disease"

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken William L et al. Nature communications 2022 11 (1) 6324 (Posted: Nov 08, 2022 7AM)

Here, we show that specialist multidisciplinary analysis of WGS, following an initial ‘no primary findings’ (NPF) report, improves diagnostic rates and alters management. We undertook WGS in 102 adults with diagnostically challenging primary mitochondrial disease phenotypes. NPF cases were reviewed by a genomic medicine team, thus enabling bespoke informatic approaches, co-ordinated phenotypic validation, and functional work. We enhanced the diagnostic rate from 16.7% to 31.4%, with management implications for all new diagnoses.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics
VA Yepez et al, Genome Medicine, April 5, 2022 (Posted: Apr 06, 2022 10AM)

Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studies advocate to further sequence transcriptomes to directly and systematically probe gene expression defects. We implemented an automated RNA-seq protocol and a computational workflow with which we analyzed skin fibroblasts of 303 individuals with a suspected mitochondrial disease that previously underwent WES.

Recognition, investigation and management of mitochondrial disease.
Davison James E et al. Archives of disease in childhood 2017 Jun (Posted: Jun 28, 2017 7PM)

Novel reproductive technologies to prevent mitochondrial disease.
Craven Lyndsey et al. Human reproduction update 2017 Jun 1-19 (Posted: Jun 28, 2017 7PM)

Mitochondrial disease has a disproportionate healthcare burden in US
Science Mag, June 28, 2017 (Posted: Jun 28, 2017 7PM)

The genetics and pathology of mitochondrial disease.
Alston Charlotte L et al. The Journal of pathology 2017 Jan (2) 236-250 (Posted: Mar 08, 2017 11AM)

Mitochondrial disease and endocrine dysfunction.
Chow Jasmine et al. Nature reviews. Endocrinology 2017 Feb (2) 92-104 (Posted: Mar 08, 2017 11AM)

Presentation and Diagnostic Evaluation of Mitochondrial Disease.
Dimmock David P et al. Pediatric clinics of North America 2017 Feb (1) 161-171 (Posted: Mar 08, 2017 11AM)

Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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