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Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them.
To critically appraise literature on recent advances and methods using "big data" to evaluate stroke outcomes and associated factors.
We propose that the molecular and cellular events that govern a resolving, rather than an evolving, disease may reveal new druggable pathways.
Severe hospitalized varicella still occurs with a 1-dose varicella program, although predominantly in unvaccinated children
Nutrition is one of the most easily modifiable environmental factors during early life that may play a role in allergic disease prevention.
Honorary Team Member, Research Nurse
Overweight and other risk factors for cardiovascular disease (CVD) as well as their clustering, are increasingly prevalent among adolescents.
Accurate measurement of dietary intake is essential for understanding the long-term effects of adolescent diet on chronic disease risk.
Neisseria meningitidis, the meningococcus, resides exclusively in humans and causes invasive meningococcal disease (IMD). The population of N. meningitidis is structured into stable clonal complexes by limited horizontal recombination in this naturally transformable species.
Bushfires can have a considerable impact on our health, with some symptoms lasting long after the flames are extinguished. And our children are amongst the most vulnerable.