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Posted 10 March 2025 PM
Australian researchers have led the writing of a white paper detailing how global partnerships that embed scientific research into clinical care can revolutionise diagnosis and treatment for children with rare genetic diseases.
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease published in npj Genomic Medicine, written by researchers at the Murdoch Children's Research Institute in collaboration with organisations in the UK, Canada, and the US, detailed the success of a study using the integrated method to test the effectiveness of rapid genome sequencing at diagnosing babies with epilepsy.
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