"Evie is a vivacious, bubbly, strong-willed, happy-go-lucky little girl,” says her Mum Natasha Wagner. Except, as Natasha tells ABC Radio National’s Health Report, Evie’s life is anything but ordinary.
Australian Genomics marks an important milestone this month, with summary level genomic data housed in its Variant Atlas platform now available to clinicians, scientists and researchers for secondary research.
In 2017, Australian Genomics awarded bioinformatics researcher Harriet Dashnow with top-up funding toward her PhD research. Harriet’s research focused on detecting short tandem repeat expansions. We caught up with Harriet recently following the successful completion of her PhD, and to hear more about her post-doctoral position now with the Quinlan Lab at the University of Utah.
Over the last two years, the World Economic Forum’s precision medicine team led a pilot project called Breaking Barriers to Health Data, designed to ensure that people living with rare and other complex diseases were not missing out on life-saving diagnoses and treatments.
Ultra-rapid genomic testing is fast becoming a valuable diagnostic tool for some critically unwell children. But what is the experience of their parents in what is often a highly distressing situation?
Access to life-saving genomic testing for critically-ill children across Australia is a step closer, with the release of a new study that finds ultra-rapid testing can transform the diagnosis and treatment of children in intensive care.