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Rare disease education in Europe and beyond: time to act

People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient.

3D Face Reconstruction with Mobile Phone Cameras for Rare Disease Diagnosis

Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances.

Human Genetic Research in Wallacea and Sahul: Recent Findings and Future Prospects

Genomic sequence data from worldwide human populations have provided a range of novel insights into our shared ancestry and the historical migrations that have shaped our global genetic diversity.

Charting developmental trajectories from 12 to 36 months and associated early risk and protective factors

To investigate developmental trajectories in early childhood and predictors of class assignment.

Normative data for multiple breath washout outcomes in school-aged Caucasian children

The multiple breath nitrogen washout (N2MBW) technique is increasingly used to assess the degree of ventilation inhomogeneity in school-aged children with lung disease. However, reference values for healthy children are currently not available.

Factors Influencing Parental Acceptance of Trans Children and Young People: Findings from Trans Pathways

Trans youth are at high risk of mental health difficulties and negative life events. Strong parental support is highly protective however there is little understanding of what factors facilitate the process of parental understanding and acceptance of a child’s gender identity.

Biodiesel feedstock determines exhaust toxicity in 20% biodiesel: 80% mineral diesel blends

To address climate change concerns, and reduce the carbon footprint caused by fossil fuel use, it is likely that blend ratios of renewable biodiesel with commercial mineral diesel fuel will steadily increase, resulting in biodiesel use becoming more widespread.

Psychological Wellbeing Amongst Parents of Trans Children: An in-Depth Qualitative Investigation

Research has shown that parents of trans children face numerous challenges as they navigate their parenting role, however, little is known about the impact of these challenges on parents’ psychological wellbeing.

‘Corona is coming’: COVID-19 vaccination perspectives and experiences amongst Culturally and Linguistically Diverse West Australians

Culturally and Linguistically Diverse (CALD) groups within high-income countries are at risk of being left behind by the COVID-19 vaccination rollout. They face both access and attitudinal barriers, including low trust in government and health authorities.

Development of a Symptom-Based Tool for Screening of Children at High Risk of Preschool Asthma

Despite advances in asthma therapeutics, the burden remains highest in preschool children; therefore, it is critical to identify primary care tools that distinguish preschool children at high risk for burdensome disease for further evaluation.