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Open AccessBenefits for children with suspected cancer from routine whole-genome sequencing
Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to children with cancer and to alter treatment in high-risk patient groups. It remains unknown whether offering WGS to every ...
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Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
Achieving a diagnosis for Indigenous people living with a rare, often genetic, disease is crucial for equitable healthcare. The International Rare Disease Research Consortium convened a global Task Force to br...
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A call for global action for rare diseases in Africa
The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opp...
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Article
Open AccessWhole genome sequencing reveals that genetic conditions are frequent in intensively ill children
With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical d...
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Article
Open AccessGenome sequencing as a platform for pharmacogenetic genoty**: a pediatric cohort study
Whole-genome sequencing and whole-exome sequencing have proven valuable for diagnosing inherited diseases, particularly in children. However, usage of sequencing data as a pharmacogenetic screening tool to ens...
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Article
Open AccessWhole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
The standard of care for first-tier clinical investigation of the aetiology of congenital malformations and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy-number variations (CNVs...
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Article
Open AccessNovel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral anomalies. Five mutations in MASP1, encoding lectin co...
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Danon Disease Due to a Novel LAMP2 Microduplication
Danon disease is a rare X-linked disorder comprising hypertrophic cardiomyopathy, skeletal myopathy, intellectual disability, and retinopathy; mutations of the lysosome-associated membrane protein gene LAMP2 are ...
