Skip to content

Search

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Development of best practice guidelines for clinical and community service providers to prevent suicide in LGBTQA+ young people: A Delphi expert consensus study

The aim of this study was to develop best practice guidelines for preventing suicide and reducing suicidal thoughts and behaviours in LGBTQA+ young people (lesbian, gay, bisexual, trans, queer/questioning, asexual, and those of other diverse sexualities and genders) within clinical and community service settings in Australia.

Minority stressors, traumatic events, and associations with mental health and school climate among gender and sexuality diverse young people in Australia: Findings from a nationally representative cohort study

Population-level, nationally representative data on the prevalence of minority stressors and traumatic events, mental ill-health effects, and the preventative utility of school climate, among gender and sexuality diverse young people in Australia, is significantly lacking.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes.

Comparison of new computational methods for spatial modelling of malaria

Geostatistical analysis of health data is increasingly used to model spatial variation in malaria prevalence, burden, and other metrics. Traditional inference methods for geostatistical modelling are notoriously computationally intensive, motivating the development of newer, approximate methods for geostatistical analysis or, more broadly, computational modelling of spatial processes.

Hospital and emergency department discharge against medical advice in Western Australian Aboriginal children aged 0–4 years from 2002 to 2018: A cohort study

Discharge against medical advice (DAMA) is a priority issue for the health system. Little is known about the factors associated with DAMA for Aboriginal and/or Torres Strait Islander (Aboriginal) children in Australia. 

Towards responsive policy and actions to address non-communicable disease risks amongst adolescents in Indonesia: insights from key stakeholders

Non-communicable diseases (NCDs) such as cancer, diabetes, heart disease, mental disorder and chronic lung conditions are the leading cause of death and disability in Indonesia. Adolescence is when risks for NCDs emerge and it is also an important life stage for intervention, yet young people are often at the margins of NCD policy and actions.

Systemic perturbations in amino acids/amino acid derivatives and tryptophan pathway metabolites associated with murine influenza A virus infection

Influenza A virus is the only influenza virus causing flu pandemics. Influenza is a highly contagious disease that can be deadly, especially in high-risk groups. Worldwide, these annual epidemics are estimated to result in about 3 to 5 million cases of severe illness and in about 290,000 to 650,000 respiratory deaths. 

The airway smooth muscle layer is structurally abnormal in low birth weight infants: implications for obstructive disease

Citation: Wang KCW, Elliot JG, Saglani S, et al. The airway smooth muscle layer is structurally abnormal in low birth weight infants: implications

A blueprint for a multi-disease, multi-domain Bayesian adaptive platform trial incorporating adult and paediatric subgroups: the Staphylococcus aureus Network Adaptive Platform trial

The Staphylococcus aureus Network Adaptive Platform (SNAP) trial is a multifactorial Bayesian adaptive platform trial that aims to improve the way that S. aureus bloodstream infection, a globally common and severe infectious disease, is treated. In a world first, the SNAP trial will simultaneously investigate the effects of multiple intervention modalities within multiple groups of participants with different forms of S. aureus bloodstream infection.