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Research
Early detection of lung function abnormalities in young children with cystic fibrosisIn this review, we have examined the role of lung function testing in infants and preschool children with CF.
Research
Siblings of children with disabilities: challenges and opportunitiesSiblings of children with disabilities: challenges and opportunities
Work as a Research Assistant with ORIGINS
The Opportunity This opportunity is within the Institute's Finance team, reporting to the Financial Controller delivering high quality finance
Provides effective and outstanding administrative support to the Children's Diabetes Centre and supports the work of the research team.
Research
Single-cell data combined with phenotypes improves variant interpretationWhole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.
Research
ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processingCanonical RNA processing in mammalian mitochondria is defined by tRNAs acting as recognition sites for nucleases to release flanking transcripts. The relevant factors, their structures, and mechanism are well described, but not all mitochondrial transcripts are punctuated by tRNAs, and their mode of processing has remained unsolved.
Research
Penicillin G concentrations required for prophylaxis against Group A Streptococcus infection evaluated using a hollow fibre model and mathematical modellingAcute rheumatic fever (ARF), an autoimmune reaction to Group A Streptococcus (Streptococcus pyogenes; Strep A) infection, can cause rheumatic heart disease (RHD). New formulations of long-acting penicillins are being developed for secondary prophylaxis of ARF and RHD.
Research
A pilot implementation study of a chronic pain core outcome set and decision tree for children and young people with cerebral palsyThis study aimed to (i) develop a decision tree to guide clinicians to use a core outcome set (COS) of chronic pain assessment tools specific to children and young people with cerebral palsy and (ii) pilot test the implementation of the decision tree and core set in clinical practice.