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Research

Single-cell data combined with phenotypes improves variant interpretation

Whole 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

A pilot implementation study of a chronic pain core outcome set and decision tree for children and young people with cerebral palsy

This 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.

Research

Understanding wellbeing from the perspective of youth with chronic conditions: A group concept mapping approach

Promoting wellbeing for youth is a global health priority and young people with chronic conditions demonstrate disproportionately low wellbeing compared to their peers. However, wellbeing is variably defined, and little is understood as to what wellbeing means for this population. The aim of this study was to develop a conceptualisation of wellbeing that is rooted in the perspectives of young people with chronic conditions. 

Research

Session Rating of Perceived Exertion Is a Valid Method to Monitor Intensity of Exercise in Adults with Acute Burn Injuries

Measuring exercise intensity for safety and to inform prescription in acute burn survivors, is challenging. This study aimed to assess the validity of adult patient end-of-workout rating of session perceived exertion (sRPE); and calculated training load (TL) (sRPE × session duration) as measures of exercise intensity. Secondly, the study aimed to compare clinician and patient perception of exercise effort during physiotherapist-led sessions.

Research

Measurement properties and feasibility of chronic pain assessment tools for use with children and young people with cerebral palsy

Chronic pain assessment tools exist for children, but may not be valid, reliable, and feasible for populations with functional, cognitive or communication limitations, for example, cerebral palsy (CP). This study aimed to (i) identify chronic pain assessment tools used with children and young people and rate their measurement properties; (ii) develop a CP specific feasibility rating tool to assess the feasibility of tools in CP; and (iii) categorise tools according to reporting method.

Research

Per Os to Protection – Targeting the Oral Route to Enhance Immune-mediated Protection from Disease of the Human Newborn

Valerie Verhasselt MD, PhD Head, Immunology and Breastfeeding 0402997617 Valerie.verhasselt@thekids.org.au Head, Immunology and Breastfeeding @

Research

Quantitative subcellular reconstruction reveals a lipid mediated inter-organelle biogenesis network

The structures and functions of organelles in cells depend on each other but have not been systematically explored. We established stable knockout cell lines of peroxisomal, Golgi and endoplasmic reticulum genes identified in a whole-genome CRISPR knockout screen for inducers of mitochondrial biogenesis stress, showing that defects in peroxisome, Golgi and endoplasmic reticulum metabolism disrupt mitochondrial structure and function. 

Research

Malaria risk stratification in Lao PDR guides program planning in an elimination setting

Malaria in Lao People's Democratic Republic (Lao PDR) has declined rapidly over the last two decades, from 279,903 to 3926 (99%) cases between 2001 and 2021. Elimination of human malaria is an achievable goal and limited resources need to be targeted at remaining hotspots of transmission. 

Research

European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation

Atopic dermatitis is a common inflammatory skin condition and prior genome-wide association studies have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date combining previously reported cohorts with additional available data.