Global partnerships transforming diagnosis and treatment for rare genetic diseases

Bogdan Hofbauer

Murdoch Childrens Research Institute Feb 27 2025 Global partnerships that embed scientific research into clinical care are revolutionizing the diagnosis and treatments for children with rare genetic diseases, according to a new report. The white paper found despite advances in genomic technologies, which can detect rare genetic diseases within days, there remained significant challenges to ensuring this leads to improved child health outcomes. But global collaborations, such as the

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