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Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.

There is limited evidence on the impact of parental mental health problems on offspring’s educational outcomes. We investigated the impact of maternal anxiety and depressive symptoms, as well as paternal emotional problems on the educational outcomes of their adolescent and young adult offspring.

Trajectories of airway remodeling and functional impairment in asthma are consistent with the notion that airway pathology precedes or coincides with the onset of asthma symptoms and may be present at birth.

Although genetic and epidemiological evidence indicates vitamin D insufficiency contributes to multiple sclerosis (MS), and serum levels of vitamin D increase on treatment with cholecalciferol, recent metanalyses indicate that this vitamin D form does not ameliorate disease. Genetic variation in genes regulating vitamin D, and regulated by vitamin D, affect MS risk.

The goal of therapy in Type 1 diabetes is to achieve optimal glycaemic targets and reduce complications. Robust data representing glycaemic outcomes across the lifespan are lacking in Australasia.

Study question: Do the epigenome-wide DNA methylation profiles of adolescents born from ART differ from the epigenome of naturally conceived counterparts? Summary answer: No significant differences in the DNA methylation profiles of adolescents born from ART [IVF or ICSI] were observed when compared to their naturally conceived, similar aged counterparts.

NUT carcinoma (NC), previously known as NUT midline carcinoma, is a rare and very aggressive cancer that occurs in both children and adults. NC is largely chemoresistant, with an overall survival of less than 7 months. Because the carcinoma is not restricted to a particular organ, diagnosis is often a challenge. In the absence of a clearly determined incidence for NC, we sought to study the diagnosis of patients in a well-defined population.

Mental health and well-being during childhood and adolescence have been shown to impact on health, educational attainment and employment in adulthood.1–3 Although health and education systems worldwide have long recognized the importance of promoting student well-being,4–6 population-wide monitoring of well-being remains uncommon.

Increasing numbers of trans young people are seeking medical services worldwide, but there have been few qualitative investigations of the experiences of trans young people attempting to engage with these services to explore in-depth experiences of clinical interactions.

This article explores why governments do not respond to public compliance problems in a timely manner with appropriate instruments, and the consequences of their failure to do so. Utilising a case study of Italian vaccination policy, the article considers counterfactuals and the challenges of governing health policy in an age of disinformation. It counterposes two methods of governing vaccination compliance: discipline, which uses public institutions to inculcate the population with favourable attitudes and practices, and modulation, which uses access to public institutions as a form of control.